chr1:196690107:C>T Detail (hg38) (CFH)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:196,659,237-196,659,237 View the variant detail on this assembly version. |
| hg38 | chr1:196,690,107-196,690,107 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000186.3:c.1204C>T | NP_000177.2:p.His402Tyr |
| NM_001014975.2:c.1204C>T | NP_001014975.1:p.His402Tyr | |
| Ensemble | ENST00000359637.3:c.1012C>T | ENST00000359637.3:p.His338Tyr |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.932 |
| ToMMo:0.933 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.951 |
Prediction
ClinVar
| Clinical Significance | Conflicting classifications of pathogenicity |
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Benign
|
2021-07-22 | criteria provided, multiple submitters, no conflicts | basal laminar drusen |
germline
|
Detail |
|
Benign
|
2021-07-22 | criteria provided, multiple submitters, no conflicts | age related macular degeneration 4 |
germline
|
Detail |
|
Benign
|
2017-04-27 | criteria provided, single submitter | CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II |
germline
|
Detail |
|
Benign
|
2021-07-22 | criteria provided, multiple submitters, no conflicts | Hemolytic uremic syndrome, atypical, susceptibility to, 1 |
germline
|
Detail |
Conflicting interpretations of pathogenicity
|
2024-02-01 | criteria provided, conflicting interpretations | not provided |
germline
|
Detail |
|
Benign
|
2021-07-22 | criteria provided, single submitter | Factor H deficiency |
germline
|
Detail |
|
Benign
|
2022-10-05 | criteria provided, single submitter | atypical hemolytic-uremic syndrome |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.002 | Diabetes | After multivariate adjustment for age, sex, educational level, smoking, BMI, lip... | BeFree | 24608419 | Detail |
| 0.480 | age related macular degeneration | After multivariate adjustment for age, sex, educational level, smoking, BMI, lip... | BeFree | 24608419 | Detail |
| <0.001 | diabetes mellitus | After multivariate adjustment for age, sex, educational level, smoking, BMI, lip... | BeFree | 24608419 | Detail |
| 0.010 | age related macular degeneration | After multivariate adjustment for age, sex, educational level, smoking, BMI, lip... | BeFree | 24608419 | Detail |
| 0.010 | diabetes mellitus | After multivariate adjustment for age, sex, educational level, smoking, BMI, lip... | BeFree | 24608419 | Detail |
| 0.128 | age related macular degeneration | After multivariate adjustment for age, sex, educational level, smoking, BMI, lip... | BeFree | 24608419 | Detail |
| 0.006 | age related macular degeneration | After multivariate adjustment for age, sex, educational level, smoking, BMI, lip... | BeFree | 24608419 | Detail |
| <0.001 | Diabetes | After multivariate adjustment for age, sex, educational level, smoking, BMI, lip... | BeFree | 24608419 | Detail |
| 0.319 | age related macular degeneration | Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated ge... | BeFree | 23582991 | Detail |
| 0.480 | age related macular degeneration | Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated ge... | BeFree | 23582991 | Detail |
| 0.021 | age related macular degeneration | Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated ge... | BeFree | 23582991 | Detail |
| 0.005 | age related macular degeneration | Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated ge... | BeFree | 23582991 | Detail |
| 0.480 | age related macular degeneration | After multivariate adjustment, CFH Y402H and ARMS2 A69S polymorphisms were assoc... | BeFree | 24362810 | Detail |
| 0.404 | age related macular degeneration | Sixty-nine patients being treated for neovascular AMD with PDT were genotyped fo... | BeFree | 18292785 | Detail |
| 0.404 | age related macular degeneration | To determine whether gene polymorphisms of the major genetic risk factor for age... | BeFree | 21151600 | Detail |
| 0.404 | age related macular degeneration | The final model included the following independent variables: age, smoking histo... | BeFree | 21825180 | Detail |
| 0.128 | Exudative age-related macular degeneration | Further support for the common variants in complement factor H (Y402H) and LOC38... | BeFree | 16954704 | Detail |
| 0.480 | age related macular degeneration | Abnormal regulation of the complement system likely caused by the Y402H polymorp... | BeFree | 17576744 | Detail |
| 0.480 | age related macular degeneration | Highly myopic elderly Japanese patients with and without CNV were genotyped for ... | BeFree | 19680273 | Detail |
| 0.404 | age related macular degeneration | Abnormal regulation of the complement system likely caused by the Y402H polymorp... | BeFree | 17576744 | Detail |
| 0.128 | Exudative age-related macular degeneration | A69S and R38X ARMS2 and Y402H CFH gene polymorphisms as risk factors for neovasc... | BeFree | 22293892 | Detail |
| 0.480 | age related macular degeneration | To investigate whether the major genetic and environmental risk factors of age-r... | BeFree | 20688737 | Detail |
| 0.480 | age related macular degeneration | The highest risk was observed in those doubly homozygous for rs10490924 and rs10... | BeFree | 23098369 | Detail |
| 0.480 | age related macular degeneration | The major AMD-associated single nucleotide polymorphisms (CFH Y402 rs1061170, CF... | BeFree | 23111182 | Detail |
| 0.131 | Exudative age-related macular degeneration | A69S and R38X ARMS2 and Y402H CFH gene polymorphisms as risk factors for neovasc... | BeFree | 22293892 | Detail |
| 0.404 | age related macular degeneration | Multifactor effects and evidence of potential interaction between complement fac... | BeFree | 19048105 | Detail |
| 0.404 | age related macular degeneration | Association of CFH Y402H and LOC387715 A69S with progression of age-related macu... | BeFree | 17456821 | Detail |
| 0.404 | age related macular degeneration | Allele and genotype frequencies of single nucleotide polymorphisms for the follo... | BeFree | 19001225 | Detail |
| 0.404 | age related macular degeneration | Genetic risk was based on Y402H in complement factor H (CFH) and A69S in age-rel... | BeFree | 26354764 | Detail |
| 0.480 | age related macular degeneration | Multifactor effects and evidence of potential interaction between complement fac... | BeFree | 19048105 | Detail |
| 0.007 | Geographic Atrophy | Although genetic markers were associated significantly with 3-year CNV (CFH: Y40... | BeFree | 22704140 | Detail |
| 0.131 | Exudative age-related macular degeneration | Further support for the common variants in complement factor H (Y402H) and LOC38... | BeFree | 16954704 | Detail |
| 0.404 | age related macular degeneration | To investigate whether the major genetic and environmental risk factors of age-r... | BeFree | 20688737 | Detail |
| 0.404 | age related macular degeneration | 1093 patients with exudative AMD and 396 controls have been recruited and genoty... | BeFree | 21621535 | Detail |
| 0.404 | age related macular degeneration | After multivariate adjustment, CFH Y402H and ARMS2 A69S polymorphisms were assoc... | BeFree | 24362810 | Detail |
| 0.404 | age related macular degeneration | To explore the association between polymorphisms in the complement component 3 (... | BeFree | 19168221 | Detail |
| 0.404 | age related macular degeneration | To confirm association of the complement factor H allelic variant (CFH Y402H) an... | BeFree | 18161619 | Detail |
| 0.404 | age related macular degeneration | Rapid detection of CFH (p.Y402H) and ARMS2 (p.A69S) polymorphisms in age-related... | BeFree | 22706242 | Detail |
| 0.010 | Geographic Atrophy | Although genetic markers were associated significantly with 3-year CNV (CFH: Y40... | BeFree | 22704140 | Detail |
| 0.480 | age related macular degeneration | 1093 patients with exudative AMD and 396 controls have been recruited and genoty... | BeFree | 21621535 | Detail |
| 0.404 | age related macular degeneration | Genotyping was performed for the Y402H variant of CFH, for the L9H, R32Q, and K5... | BeFree | 23112567 | Detail |
| 0.404 | age related macular degeneration | Highly myopic elderly Japanese patients with and without CNV were genotyped for ... | BeFree | 19680273 | Detail |
| 0.480 | age related macular degeneration | Sixty-nine patients being treated for neovascular AMD with PDT were genotyped fo... | BeFree | 18292785 | Detail |
| 0.480 | age related macular degeneration | To explore the association between polymorphisms in the complement component 3 (... | BeFree | 19168221 | Detail |
| 0.267 | age related macular degeneration | Allele and genotype frequencies of single nucleotide polymorphisms for the follo... | BeFree | 19001225 | Detail |
| 0.480 | age related macular degeneration | In our Southern California population, the ARMS2 (rs10490924) and CFH (rs1061170... | BeFree | 23302509 | Detail |
| 0.319 | age related macular degeneration | Allele and genotype frequencies of single nucleotide polymorphisms for the follo... | BeFree | 19001225 | Detail |
| 0.404 | age related macular degeneration | In our Southern California population, the ARMS2 (rs10490924) and CFH (rs1061170... | BeFree | 23302509 | Detail |
| 0.480 | age related macular degeneration | Participants with 1 or 2 copies of the Y402H variant of CFH were, respectively, ... | BeFree | 17210852 | Detail |
| <0.001 | Photopsia | Thirty-three early AMD patients, screened for CFH (rs1061170) and ARMS2 (rs10490... | BeFree | 24067115 | Detail |
| 0.267 | age related macular degeneration | Highly myopic elderly Japanese patients with and without CNV were genotyped for ... | BeFree | 19680273 | Detail |
| 0.480 | age related macular degeneration | Association of CFH Y402H and LOC387715 A69S with progression of age-related macu... | BeFree | 17456821 | Detail |
| 0.480 | age related macular degeneration | Rapid detection of CFH (p.Y402H) and ARMS2 (p.A69S) polymorphisms in age-related... | BeFree | 22706242 | Detail |
| 0.267 | age related macular degeneration | We genotyped three SNPs, rs1061170 (exon 9, CFH), rs11200638 (HTRA1 promoter, -5... | BeFree | 18682806 | Detail |
| 0.404 | age related macular degeneration | Participants with 1 or 2 copies of the Y402H variant of CFH were, respectively, ... | BeFree | 17210852 | Detail |
| 0.480 | age related macular degeneration | To determine whether gene polymorphisms of the major genetic risk factor for age... | BeFree | 21151600 | Detail |
| 0.404 | age related macular degeneration | To investigate whether dietary nutrients can reduce the genetic risk of early ag... | BeFree | 21670343 | Detail |
| 0.480 | age related macular degeneration | Our purpose was to assess influence of gene polymorphisms A69S (rs10490924) and ... | BeFree | 22293892 | Detail |
| 0.011 | macular degeneration | Sixty-nine patients being treated for neovascular AMD with PDT were genotyped fo... | BeFree | 18292785 | Detail |
| 0.007 | macular degeneration | Sixty-nine patients being treated for neovascular AMD with PDT were genotyped fo... | BeFree | 18292785 | Detail |
| <0.001 | Photopsia | Thirty-three early AMD patients, screened for CFH (rs1061170) and ARMS2 (rs10490... | BeFree | 24067115 | Detail |
| 0.480 | age related macular degeneration | The final model included the following independent variables: age, smoking histo... | BeFree | 21825180 | Detail |
| 0.007 | macular degeneration | After multivariate adjustment, CFH Y402H and ARMS2 A69S polymorphisms were assoc... | BeFree | 24362810 | Detail |
| 0.011 | macular degeneration | After multivariate adjustment, CFH Y402H and ARMS2 A69S polymorphisms were assoc... | BeFree | 24362810 | Detail |
| 0.195 | age related macular degeneration | We investigated the frequency of Tyr402His polymorphism of the complement factor... | BeFree | 19845562 | Detail |
| 0.011 | atherosclerosis | In this study, we examined whether the gene-gene interactions between CRP haplot... | BeFree | 19076828 | Detail |
| 0.003 | Soft drusen | Dividing the study group into subjects with bilateral soft drusen and unilateral... | BeFree | 20038862 | Detail |
| 0.069 | Coronary heart disease | Complement factor H (CFH) Y402H polymorphism is located in a region that binds C... | BeFree | 17483111 | Detail |
| 0.004 | Drusen | The CFH Y402H polymorphism showed a genotype-phenotype association for some drus... | BeFree | 18211923 | Detail |
| 0.003 | Soft drusen | After adjusting for age and other covariants, the CFH CC (Y402H polymorphism) ge... | BeFree | 19822851 | Detail |
| 0.195 | age related macular degeneration | Analysis of CFH, TLR4, and APOE polymorphism in India suggests the Tyr402His var... | BeFree | 16936080 | Detail |
| 0.480 | age related macular degeneration | In addition, a specific Y402H polymorphism of the complement inhibitor factor H ... | BeFree | 22067048 | Detail |
| 0.131 | Exudative age-related macular degeneration | Complement factor H variant Y402H and basal laminar deposits in exudative age-re... | BeFree | 17704937 | Detail |
| 0.480 | age related macular degeneration | Analysis of CFH, TLR4, and APOE polymorphism in India suggests the Tyr402His var... | BeFree | 16936080 | Detail |
| 0.480 | age related macular degeneration | The complement factor H (CFH) tyrosine 402 histidine (Y402H, rs1061170) variant ... | BeFree | 24863099 | Detail |
| 0.131 | Exudative age-related macular degeneration | Complement factor H Y402H polymorphism and characteristics of exudative age-rela... | BeFree | 17995985 | Detail |
| 0.004 | Drusen | This supports an autosomal-recessive disease model in which individuals who carr... | BeFree | 18252232 | Detail |
| 0.480 | age related macular degeneration | To incorporate the two most important known AMD risk factors--smoking and the Y4... | BeFree | 16642439 | Detail |
| 0.003 | Soft drusen | CFH Y402H confers similar risk of soft drusen and both forms of advanced AMD. | BeFree | 16300415 | Detail |
| 0.480 | age related macular degeneration | The most important genetic associations in AMD involved the complement factor H ... | BeFree | 17491602 | Detail |
| 0.480 | age related macular degeneration | We detected no clear impact of the CFH Y402H polymorphism on recent exudative AM... | BeFree | 17995985 | Detail |
| 0.241 | BASAL LAMINAR DRUSEN (disorder) | Complement factor H polymorphism p.Tyr402His and cuticular Drusen. | BeFree | 17210858 | Detail |
| 0.012 | Coronary heart disease | Complement factor H (Y402H) polymorphism and risk of coronary heart disease in U... | BeFree | 17483111 | Detail |
| 0.480 | age related macular degeneration | The complement factor H (CFH) gene polymorphism Y402H (1277T-->C) has been as... | BeFree | 16431947 | Detail |
| 0.480 | age related macular degeneration | The seventh short complement regulator (SCR-7) domain of the 20 in FH is associa... | BeFree | 17362990 | Detail |
| 0.128 | Exudative age-related macular degeneration | The purpose of this study was to determine the pharmacogenetic effects of comple... | BeFree | 23204795 | Detail |
| 0.480 | age related macular degeneration | A common polymorphism in the complement factor H gene (rs1061170, Y402H) is asso... | BeFree | 23596508 | Detail |
| 0.131 | Exudative age-related macular degeneration | Association of complement factor H Y402H polymorphism with phenotype of neovascu... | BeFree | 18852870 | Detail |
| 0.241 | BASAL LAMINAR DRUSEN (disorder) | In patients with CD, the association with the CFH Y402H risk allele was signific... | BeFree | 22933840 | Detail |
| 0.480 | age related macular degeneration | Heritability and genome-wide association study to assess genetic differences bet... | GWASCAT | 22705344 | Detail |
| 0.480 | age related macular degeneration | To determine whether the complement factor H (CFH) tyrosine 402 histidine (Y402H... | BeFree | 23497844 | Detail |
| 0.480 | age related macular degeneration | The aim of this study was to assess the association between SSNHL and polymorphi... | BeFree | 22426290 | Detail |
| 0.011 | atherosclerosis | In addition, a specific Y402H polymorphism of the complement inhibitor factor H ... | BeFree | 22067048 | Detail |
| 0.480 | age related macular degeneration | The prevalence of homozygous carriers in regard to CFH Y402H polymorphism, which... | BeFree | 17704937 | Detail |
| 0.480 | age related macular degeneration | Functional and structural implications of the complement factor H Y402H polymorp... | BeFree | 18263814 | Detail |
| 0.480 | age related macular degeneration | The data suggest that Taiwan Chinese carriers of the IL-8 +781 T allele, indepen... | BeFree | 18235016 | Detail |
| 0.131 | Exudative age-related macular degeneration | Association of the Y402H polymorphism in complement factor H gene and neovascula... | BeFree | 16877387 | Detail |
| <0.001 | Exudative age-related macular degeneration | Comprehensive analysis of CRP, CFH Y402H and environmental risk factors on risk ... | BeFree | 18704199 | Detail |
| 0.011 | Cardiovascular Diseases | Association of the complement factor H Y402H polymorphism with cardiovascular di... | BeFree | 18292760 | Detail |
| 0.480 | age related macular degeneration | Complement factor H Y402H variant and risk of age-related macular degeneration i... | BeFree | 20869121 | Detail |
| 0.480 | age related macular degeneration | Association between variant Y402H in age-related macular degeneration (AMD) susc... | BeFree | 22905135 | Detail |
| 0.480 | age related macular degeneration | Both VEGF +936 C/T and CFH Y402H polymorphisms are dependently associated with w... | BeFree | 18378209 | Detail |
| 0.011 | Cardiovascular Diseases | Complement factor H Y402H decreases cardiovascular disease risk in patients with... | BeFree | 19098018 | Detail |
| 0.480 | age related macular degeneration | Age-related macular degeneration and association of CFH Y402H and LOC387715 A69S... | BeFree | 21790300 | Detail |
| 0.480 | age related macular degeneration | There was a trend for association between the CFH Y402H T allele (low risk for A... | BeFree | 24113783 | Detail |
| 0.009 | Hypertensive disease | Association of the complement factor H Y402H polymorphism with cardiovascular di... | BeFree | 18292760 | Detail |
| 0.480 | age related macular degeneration | A prospective assessment of the Y402H variant in complement factor H, genetic va... | BeFree | 16723442 | Detail |
| 0.081 | Sepsis | Homozygosity for the complement factor H Y402H polymorphism, which is thought to... | BeFree | 20351616 | Detail |
| 0.003 | age related macular degeneration | The prevalence of homozygous carriers in regard to CFH Y402H polymorphism, which... | BeFree | 17704937 | Detail |
| 0.480 | age related macular degeneration | No associations appeared between HIF1A SNPs and AMD, which were studied here for... | BeFree | 24995509 | Detail |
| 0.131 | Exudative age-related macular degeneration | Comprehensive analysis of CRP, CFH Y402H and environmental risk factors on risk ... | BeFree | 18704199 | Detail |
| 0.131 | Exudative age-related macular degeneration | To determine serum vascular endothelial growth factor 165 (VEGF165) levels and t... | BeFree | 21158586 | Detail |
| 0.480 | age related macular degeneration | Effect of the Y402H variant in the complement factor H gene on the incidence and... | BeFree | 22965593 | Detail |
| 0.082 | obesity | Moreover, in exploratory analyses, we identified a number of possible interactio... | BeFree | 24287500 | Detail |
| 0.480 | age related macular degeneration | [implicate different biologic pathways than previously reported and provide new ... | GAD | 20385826 | Detail |
| <0.001 | Thromboembolism | We, therefore, evaluated the CFH genetic variant Y402H amongst 685 Caucasian ind... | BeFree | 16229850 | Detail |
| 0.480 | age related macular degeneration | To determine serum vascular endothelial growth factor 165 (VEGF165) levels and t... | BeFree | 21158586 | Detail |
| 0.004 | Drusen | A FH Tyr402His polymorphism in SCR-7 is associated with age-related macular dege... | BeFree | 20711705 | Detail |
| 0.006 | age related macular degeneration | The data suggest that Taiwan Chinese carriers of the IL-8 +781 T allele, indepen... | BeFree | 18235016 | Detail |
| 0.241 | BASAL LAMINAR DRUSEN (disorder) | NA | CLINVAR | Detail | |
| 0.011 | macular degeneration | The joint effects for complement factor H (CFH) Y402H and 10q26 variants indicat... | BeFree | 20456446 | Detail |
| <0.001 | diabetes mellitus | Contribution of complement factor H Y402H polymorphism to sudden sensorineural h... | BeFree | 22426290 | Detail |
| 0.003 | Retinal Diseases | The Y402H variant of complement factor H is associated with age-related macular ... | BeFree | 19646183 | Detail |
| 0.480 | age related macular degeneration | Peripheral reticular pigmentary change is associated with complement factor H po... | BeFree | 18067970 | Detail |
| 0.011 | macular degeneration | CFH Y402H confers similar risk of soft drusen and both forms of advanced AMD. | BeFree | 16300415 | Detail |
| 0.480 | age related macular degeneration | Homozygotes of CFH Y402H with dietary intake of zinc in the highest tertile redu... | BeFree | 21670343 | Detail |
| <0.001 | Diabetes | Contribution of complement factor H Y402H polymorphism to sudden sensorineural h... | BeFree | 22426290 | Detail |
| 0.003 | pseudoxanthoma elasticum | Complement factor H variant p.Y402H in pseudoxanthoma elasticum patients. | BeFree | 18627285 | Detail |
| 0.011 | myocardial infarction | We, therefore, evaluated the CFH genetic variant Y402H amongst 685 Caucasian ind... | BeFree | 16229850 | Detail |
| 0.005 | Hypercholesterolemia, Familial | Complement factor H Y402H decreases cardiovascular disease risk in patients with... | BeFree | 19098018 | Detail |
| 0.480 | age related macular degeneration | After adjusting for CFH Y402H genotype, age, sex and smoking history, the level ... | BeFree | 25363549 | Detail |
| 0.480 | age related macular degeneration | The aMeDi score was significantly associated with a lower risk of incident advan... | BeFree | 26490493 | Detail |
| <0.001 | Atrophic condition of skin | To evaluate a possible association between the complement factor H (CFH) Y402H p... | BeFree | 23306536 | Detail |
| 0.480 | age related macular degeneration | However with the recent finding of the Tyr402His polymorphism in the complement ... | BeFree | 17134647 | Detail |
| 0.480 | age related macular degeneration | A strong association between a coding variant, Y402H, in the complement factor H... | BeFree | 16877387 | Detail |
| 0.480 | age related macular degeneration | Analysis of complement factor H Y402H, LOC387715, HTRA1 polymorphisms and ApoE a... | BeFree | 19845562 | Detail |
| <0.001 | uveitis | Association of complement factor H tyrosine 402 histidine genotype with posterio... | BeFree | 23497844 | Detail |
| 0.480 | age related macular degeneration | Systematic review and meta-analysis of the association between complement factor... | BeFree | 16905558 | Detail |
| <0.001 | macular degeneration | Furthermore, the C allele of the CFH rs1061170, but not the CFB rs4151667 and rs... | BeFree | 19899988 | Detail |
| <0.001 | Multifocal choroiditis | To determine whether the complement factor H (CFH) tyrosine 402 histidine (Y402H... | BeFree | 23497844 | Detail |
| 0.012 | Coronary heart disease | Complement factor H Y402H polymorphism, plasma concentration and risk of coronar... | BeFree | 18604638 | Detail |
| 0.021 | age related macular degeneration | We genotyped three SNPs in the CFH gene cluster that are closely linked to age-r... | BeFree | 22848687 | Detail |
| <0.001 | Uveitis, Posterior | Carriage of the CFH Y402H polymorphism in both alleles is associated with an inc... | BeFree | 23497844 | Detail |
| 0.001 | macular degeneration | Our data did not show significant association between the CFH Y402H polymorphism... | BeFree | 19692124 | Detail |
| 0.480 | age related macular degeneration | Analysis of the Y402H variant of the complement factor H gene in age-related mac... | BeFree | 17003406 | Detail |
| 0.480 | age related macular degeneration | We genotyped three SNPs in the CFH gene cluster that are closely linked to age-r... | BeFree | 22848687 | Detail |
| 0.480 | age related macular degeneration | Association of CFH Y402H polymorphism with both forms of advanced age-related ma... | BeFree | 22486323 | Detail |
| 0.480 | age related macular degeneration | Deletion of both copies of CFHR3 and CFHR1 decreased the odds of having AMD eigh... | BeFree | 19553609 | Detail |
| 0.011 | macular degeneration | Ethnic variation in AMD-associated complement factor H polymorphism p.Tyr402His. | BeFree | 16865697 | Detail |
| 0.480 | age related macular degeneration | The high AMD prevalence observed in LT patients may be associated with the incre... | BeFree | 23562165 | Detail |
| 0.185 | age related macular degeneration | To determine serum vascular endothelial growth factor 165 (VEGF165) levels and t... | BeFree | 21158586 | Detail |
| 0.007 | Exudative age-related macular degeneration | The purpose of this study was to determine the pharmacogenetic effects of comple... | BeFree | 23204795 | Detail |
| 0.131 | Exudative age-related macular degeneration | Pharmacogenetics of complement factor H (Y402H) and treatment of exudative age-r... | BeFree | 19091853 | Detail |
| 0.480 | age related macular degeneration | Age-related macular degeneration (AMD) is a multifactorial disease that is stron... | BeFree | 18252232 | Detail |
| 0.005 | macular degeneration | To determine serum vascular endothelial growth factor 165 (VEGF165) levels and t... | BeFree | 21158586 | Detail |
| 0.480 | age related macular degeneration | Y402H polymorphism in complement factor H and age-related macular degeneration i... | BeFree | 23306536 | Detail |
| 0.005 | macular degeneration | Genotypes of 3 polymorphisms in known AMD susceptibility loci (rs1061170 in comp... | BeFree | 24080590 | Detail |
| 0.011 | macular degeneration | To determine serum vascular endothelial growth factor 165 (VEGF165) levels and t... | BeFree | 21158586 | Detail |
| 0.001 | Septicemia | Homozygosity for the complement factor H Y402H polymorphism, which is thought to... | BeFree | 20351616 | Detail |
| 0.404 | age related macular degeneration | Analysis of complement factor H Y402H, LOC387715, HTRA1 polymorphisms and ApoE a... | BeFree | 19845562 | Detail |
| 0.131 | Exudative age-related macular degeneration | Y402H complement factor H polymorphism associated with exudative age-related mac... | BeFree | 16379025 | Detail |
| <0.001 | Ocular sarcoidosis | The Y402H polymorphism of CFH seems to be associated with ocular sarcoidosis in ... | BeFree | 23497844 | Detail |
| 0.480 | age related macular degeneration | The Y402H variant of complement factor H is associated with age-related macular ... | BeFree | 19646183 | Detail |
| 0.480 | age related macular degeneration | An ecological correlation study of late age-related macular degeneration and the... | BeFree | 20042653 | Detail |
| 0.012 | Coronary heart disease | Complement factor H Y402H gene polymorphism and coronary heart disease susceptib... | BeFree | 20127520 | Detail |
| <0.001 | age related macular degeneration | Furthermore, the HS binding site in CCP6-8, which is affected by the AMD-associa... | BeFree | 23365078 | Detail |
| 0.004 | Coronary Arteriosclerosis | Complement factor H (Y402H) polymorphism and risk of coronary heart disease in U... | BeFree | 17483111 | Detail |
| 0.267 | age related macular degeneration | Analysis of complement factor H Y402H, LOC387715, HTRA1 polymorphisms and ApoE a... | BeFree | 19845562 | Detail |
| 0.131 | Exudative age-related macular degeneration | Complement factor H Y402H gene polymorphism and response to intravitreal bevaciz... | BeFree | 21232084 | Detail |
| 0.480 | age related macular degeneration | CFH-rs1061170 was significantly related to the development of early (OR = 1.94, ... | BeFree | 19797206 | Detail |
| 0.007 | Geographic Atrophy | Complement factor H variant Y402H is a major risk determinant for geographic atr... | BeFree | 16431947 | Detail |
| 0.012 | Coronary heart disease | A total of 5,520 participants without history of coronary heart disease was geno... | BeFree | 16630992 | Detail |
| 0.131 | Exudative age-related macular degeneration | Assessment of the contribution of the LOC387715 gene polymorphism in a family wi... | BeFree | 17285240 | Detail |
| 0.011 | macular degeneration | Y402H polymorphism which has been suggested to be a major risk factor of AMD in ... | BeFree | 18223247 | Detail |
| 0.480 | age related macular degeneration | Our data suggest that the CFH Y402H polymorphism is a major risk factor for exud... | BeFree | 17398321 | Detail |
| 0.480 | age related macular degeneration | A 32 kb critical region excluding Y402H in CFH mediates risk for age-related mac... | BeFree | 22022419 | Detail |
| 0.480 | age related macular degeneration | Genome-wide association study of advanced age-related macular degeneration ident... | GWASCAT | 20385826 | Detail |
| 0.185 | age related macular degeneration | Genotypes of 3 polymorphisms in known AMD susceptibility loci (rs1061170 in comp... | BeFree | 24080590 | Detail |
| 0.004 | coronary artery disease | The aim of the present study was to test for an association between the CFH-Y402... | BeFree | 17472578 | Detail |
| 0.004 | Coronary Arteriosclerosis | A total of 5,520 participants without history of coronary heart disease was geno... | BeFree | 16630992 | Detail |
| 0.480 | age related macular degeneration | CFH Y402H confers similar risk of soft drusen and both forms of advanced AMD. | BeFree | 16300415 | Detail |
| 0.126 | Membranoproliferative Glomerulonephritis, Type II | The complement factor H Y402H variant was significantly increased in dense depos... | BeFree | 22456601 | Detail |
| 0.480 | age related macular degeneration | The effect of complement factor H Y402H polymorphism on the outcome of photodyna... | BeFree | 18050121 | Detail |
| 0.011 | macular degeneration | There was a trend for association between the CFH Y402H T allele (low risk for A... | BeFree | 24113783 | Detail |
| 0.480 | age related macular degeneration | Moreover, in exploratory analyses, we identified a number of possible interactio... | BeFree | 24287500 | Detail |
| 0.017 | age related macular degeneration | Complement factor H Y402H and C-reactive protein polymorphism and photodynamic t... | BeFree | 19692124 | Detail |
| 0.480 | age related macular degeneration | The c.1204T>C, p.Tyr402His allelic variant in the CFH gene is associated with... | BeFree | 17210858 | Detail |
| <0.001 | age related macular degeneration | The M protein binding site on FH is within domain 7 in which also the age-relate... | BeFree | 18627465 | Detail |
| 0.480 | age related macular degeneration | Association between CFH Y402H polymorphism and age related macular degeneration ... | BeFree | 23922956 | Detail |
| 0.480 | age related macular degeneration | Our findings indicate that CFH (rs1061170) polymorphism impacts significantly on... | BeFree | 22552255 | Detail |
| <0.001 | panuveitis | Carriage of the CFH Y402H polymorphism in both alleles is associated with an inc... | BeFree | 23497844 | Detail |
| 0.003 | Disorder of eye | We review recent developments in molecular genetics; SNPs, including Y402H; the ... | BeFree | 20385334 | Detail |
| 0.007 | macular degeneration | AMD patients with risk variants at rs1061170 (CFH:p.Y402H) and ARMS2 and smokers... | BeFree | 23103884 | Detail |
| 0.131 | age related macular degeneration | Genotype distribution of rs1061170 (CFH), rs429608 (SKIV2L), rs2679798 (MYRIP) a... | BeFree | 24995509 | Detail |
| 0.480 | age related macular degeneration | Our data suggest that the CFH Tyr402His is not a major risk factor for overall e... | BeFree | 17198853 | Detail |
| 0.480 | age related macular degeneration | Defective complement control of factor H (Y402H) and FHL-1 in age-related macula... | BeFree | 17399790 | Detail |
| 0.017 | age related macular degeneration | A prospective assessment of the Y402H variant in complement factor H, genetic va... | BeFree | 16723442 | Detail |
| 0.480 | age related macular degeneration | Furthermore, the HS binding site in CCP6-8, which is affected by the AMD-associa... | BeFree | 23365078 | Detail |
| 0.003 | Diabetes Mellitus, Non-Insulin-Dependent | Patients with T2DM (n = 2350) were genotyped for the CFH Y402H variant. | BeFree | 19646183 | Detail |
| 0.480 | age related macular degeneration | Ethnic variation in AMD-associated complement factor H polymorphism p.Tyr402His. | BeFree | 16865697 | Detail |
| 0.480 | age related macular degeneration | The Tyr402His variant of complement factor H (CFH) is associated with age-relate... | BeFree | 18852870 | Detail |
| 0.001 | obesity | Moreover, in exploratory analyses, we identified a number of possible interactio... | BeFree | 24287500 | Detail |
| 0.004 | Coronary Arteriosclerosis | Complement factor H Y402H polymorphism, plasma concentration and risk of coronar... | BeFree | 18604638 | Detail |
| 0.480 | age related macular degeneration | The purpose of this study was to determine the pharmacogenetic effects of comple... | BeFree | 23204795 | Detail |
| 0.319 | age related macular degeneration | Furthermore, the C allele of the CFH rs1061170, but not the CFB rs4151667 and rs... | BeFree | 19899988 | Detail |
| 0.311 | age related macular degeneration | Moreover, in exploratory analyses, we identified a number of possible interactio... | BeFree | 24287500 | Detail |
| 0.480 | age related macular degeneration | We postulated that the functional Y402H polymorphism within the CFH gene and una... | BeFree | 18433936 | Detail |
| <0.001 | sarcoidosis | Association of complement factor H tyrosine 402 histidine genotype with posterio... | BeFree | 23497844 | Detail |
| 0.011 | macular degeneration | Genotypes of 3 polymorphisms in known AMD susceptibility loci (rs1061170 in comp... | BeFree | 24080590 | Detail |
| 0.131 | Exudative age-related macular degeneration | Association of complement factor H Y402H gene polymorphism with different subtyp... | BeFree | 17398321 | Detail |
| 0.003 | Systemic Inflammatory Response Syndrome | Homozygosity for the complement factor H Y402H polymorphism, which is thought to... | BeFree | 20351616 | Detail |
| 0.440 | MACULAR DEGENERATION, AGE-RELATED, 4 (disorder) | NA | CLINVAR | Detail | |
| 0.011 | macular degeneration | Our data suggest that the CFH Y402H polymorphism is a major risk factor for exud... | BeFree | 17398321 | Detail |
| 0.011 | macular degeneration | Our data did not show significant association between the CFH Y402H polymorphism... | BeFree | 19692124 | Detail |
| 0.480 | age related macular degeneration | Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-rela... | GWASCAT | 21665990 | Detail |
| 0.480 | age related macular degeneration | Complement factor H Y402H and C-reactive protein polymorphism and photodynamic t... | BeFree | 19692124 | Detail |
| 0.480 | age related macular degeneration | Significant allelic or genotypic associations between 8 C5 SNPs and AMD were fou... | BeFree | 20022638 | Detail |
| 0.480 | age related macular degeneration | AMD patients with risk variants at rs1061170 (CFH:p.Y402H) and ARMS2 and smokers... | BeFree | 23103884 | Detail |
| 0.480 | age related macular degeneration | The Y402H polymorphism in FH is a risk factor for age-related macular degenerati... | BeFree | 19850925 | Detail |
| 0.480 | age related macular degeneration | CFH gene variant, Y402H, and smoking, body mass index, environmental association... | BeFree | 16816528 | Detail |
| 0.480 | age related macular degeneration | The complement factor H (CFH) variant c.1277T > C (p.Y402H) is a recently dis... | BeFree | 18627285 | Detail |
| 0.004 | coronary artery disease | Complement factor H Y402H polymorphism, plasma concentration and risk of coronar... | BeFree | 18604638 | Detail |
| 0.128 | Exudative age-related macular degeneration | Assessment of the contribution of the LOC387715 gene polymorphism in a family wi... | BeFree | 17285240 | Detail |
| 0.480 | age related macular degeneration | Y402H polymorphism which has been suggested to be a major risk factor of AMD in ... | BeFree | 18223247 | Detail |
| 0.001 | arteriosclerosis | In this study, we examined whether the gene-gene interactions between CRP haplot... | BeFree | 19076828 | Detail |
| 0.131 | Exudative age-related macular degeneration | The purpose of this study was to determine the pharmacogenetic effects of comple... | BeFree | 23204795 | Detail |
| 0.480 | age related macular degeneration | Relationship between systemic cytokines and complement factor H Y402H polymorphi... | BeFree | 24083687 | Detail |
| 0.480 | age related macular degeneration | Association of complement factor H Y402H polymorphism and age-related macular de... | BeFree | 20626361 | Detail |
| 0.480 | age related macular degeneration | The joint effects for complement factor H (CFH) Y402H and 10q26 variants indicat... | BeFree | 20456446 | Detail |
| 0.011 | Cardiovascular Diseases | The haplotype tagging Y402H polymorphism in the Complement Factor H gene (CFH) h... | BeFree | 17869048 | Detail |
| 0.480 | age related macular degeneration | Independent effects of complement factor H Y402H polymorphism and cigarette smok... | BeFree | 17241667 | Detail |
| 0.480 | age related macular degeneration | However, the association with the CFH Y402H risk allele appeared to be stronger,... | BeFree | 22933840 | Detail |
| 0.480 | age related macular degeneration | These associations appear to be independent of the association of ARM with the Y... | BeFree | 16080115 | Detail |
| 0.480 | age related macular degeneration | Strong association of the Y402H variant in complement factor H at 1q32 with susc... | BeFree | 15895326 | Detail |
| 0.011 | macular degeneration | Furthermore, the C allele of the CFH rs1061170, but not the CFB rs4151667 and rs... | BeFree | 19899988 | Detail |
| 0.480 | age related macular degeneration | The haplotype tagging Y402H polymorphism in the Complement Factor H gene (CFH) h... | BeFree | 17869048 | Detail |
| 0.017 | age related macular degeneration | The decreased interaction between FH and CRP, which is essential for the anti-in... | BeFree | 18263814 | Detail |
| 0.011 | macular degeneration | The purpose of this study was to determine the pharmacogenetic effects of comple... | BeFree | 23204795 | Detail |
| 0.004 | Coronary Arteriosclerosis | Complement factor H Y402H gene polymorphism and coronary heart disease susceptib... | BeFree | 20127520 | Detail |
| 0.001 | arteriosclerosis | In addition, a specific Y402H polymorphism of the complement inhibitor factor H ... | BeFree | 22067048 | Detail |
| 0.480 | age related macular degeneration | Genotypes of 3 polymorphisms in known AMD susceptibility loci (rs1061170 in comp... | BeFree | 24080590 | Detail |
| 0.480 | age related macular degeneration | Clinical phenotypes associated with the complement factor H Y402H variant in age... | BeFree | 17631852 | Detail |
| 0.136 | age related macular degeneration | Analysis of CFH, TLR4, and APOE polymorphism in India suggests the Tyr402His var... | BeFree | 16936080 | Detail |
| 0.480 | age related macular degeneration | A polymorphism in the CFH gene, Y402H, known to be strongly associated with age-... | BeFree | 17396242 | Detail |
| 0.480 | age related macular degeneration | CFH haplotypes without the Y402H coding variant show strong association with sus... | BeFree | 16936733 | Detail |
| 0.480 | age related macular degeneration | A Tyr402His variant in exon 9 in the complement factor H (CFH) gene was also sig... | BeFree | 15930014 | Detail |
| 0.480 | age related macular degeneration | Furthermore, the C allele of the CFH rs1061170, but not the CFB rs4151667 and rs... | BeFree | 19899988 | Detail |
| 0.480 | age related macular degeneration | In Caucasian, a polymorphism of the complement factor H gene (CFH), the C allele... | BeFree | 16710702 | Detail |
| 0.480 | age related macular degeneration | Simvastatin may slow progression of non-advanced AMD, especially for those with ... | BeFree | 24391822 | Detail |
| 0.480 | age related macular degeneration | Individuals with the homozygous CFI rs10033900 TT genotype had a 2.9 [1.2-7.2]-f... | BeFree | 21906714 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000186.4(CFH):c.1204C>T (p.His402Tyr) AND Basal laminar drusen | ClinVar | Detail |
| NM_000186.4(CFH):c.1204C>T (p.His402Tyr) AND Age related macular degeneration 4 | ClinVar | Detail |
| NM_000186.4(CFH):c.1204C>T (p.His402Tyr) AND CFH-Related Dense Deposit Disease / Membranoproliferati... | ClinVar | Detail |
| NM_000186.4(CFH):c.1204C>T (p.His402Tyr) AND Hemolytic uremic syndrome, atypical, susceptibility to,... | ClinVar | Detail |
| NM_000186.4(CFH):c.1204C>T (p.His402Tyr) AND not provided | ClinVar | Detail |
| NM_000186.4(CFH):c.1204C>T (p.His402Tyr) AND Factor H deficiency | ClinVar | Detail |
| NM_000186.4(CFH):c.1204C>T (p.His402Tyr) AND Atypical hemolytic-uremic syndrome | ClinVar | Detail |
| After multivariate adjustment for age, sex, educational level, smoking, BMI, lipid-lowering medicati... | DisGeNET | Detail |
| After multivariate adjustment for age, sex, educational level, smoking, BMI, lipid-lowering medicati... | DisGeNET | Detail |
| After multivariate adjustment for age, sex, educational level, smoking, BMI, lipid-lowering medicati... | DisGeNET | Detail |
| After multivariate adjustment for age, sex, educational level, smoking, BMI, lipid-lowering medicati... | DisGeNET | Detail |
| After multivariate adjustment for age, sex, educational level, smoking, BMI, lipid-lowering medicati... | DisGeNET | Detail |
| After multivariate adjustment for age, sex, educational level, smoking, BMI, lipid-lowering medicati... | DisGeNET | Detail |
| After multivariate adjustment for age, sex, educational level, smoking, BMI, lipid-lowering medicati... | DisGeNET | Detail |
| After multivariate adjustment for age, sex, educational level, smoking, BMI, lipid-lowering medicati... | DisGeNET | Detail |
| Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated genes including CFH (r... | DisGeNET | Detail |
| Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated genes including CFH (r... | DisGeNET | Detail |
| Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated genes including CFH (r... | DisGeNET | Detail |
| Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated genes including CFH (r... | DisGeNET | Detail |
| After multivariate adjustment, CFH Y402H and ARMS2 A69S polymorphisms were associated with very high... | DisGeNET | Detail |
| Sixty-nine patients being treated for neovascular AMD with PDT were genotyped for the CFH Y402H and ... | DisGeNET | Detail |
| To determine whether gene polymorphisms of the major genetic risk factor for age-related macular sus... | DisGeNET | Detail |
| The final model included the following independent variables: age, smoking history, family history o... | DisGeNET | Detail |
| Further support for the common variants in complement factor H (Y402H) and LOC387715 (A69S) genes as... | DisGeNET | Detail |
| Abnormal regulation of the complement system likely caused by the Y402H polymorphism in the compleme... | DisGeNET | Detail |
| Highly myopic elderly Japanese patients with and without CNV were genotyped for three AMD-associated... | DisGeNET | Detail |
| Abnormal regulation of the complement system likely caused by the Y402H polymorphism in the compleme... | DisGeNET | Detail |
| A69S and R38X ARMS2 and Y402H CFH gene polymorphisms as risk factors for neovascular age-related mac... | DisGeNET | Detail |
| To investigate whether the major genetic and environmental risk factors of age-related macular degen... | DisGeNET | Detail |
| The highest risk was observed in those doubly homozygous for rs10490924 and rs1061170 in CFH (OR, 62... | DisGeNET | Detail |
| The major AMD-associated single nucleotide polymorphisms (CFH Y402 rs1061170, CFH I62V rs800292, and... | DisGeNET | Detail |
| A69S and R38X ARMS2 and Y402H CFH gene polymorphisms as risk factors for neovascular age-related mac... | DisGeNET | Detail |
| Multifactor effects and evidence of potential interaction between complement factor H Y402H and LOC3... | DisGeNET | Detail |
| Association of CFH Y402H and LOC387715 A69S with progression of age-related macular degeneration. | DisGeNET | Detail |
| Allele and genotype frequencies of single nucleotide polymorphisms for the following AMD-associated ... | DisGeNET | Detail |
| Genetic risk was based on Y402H in complement factor H (CFH) and A69S in age-related maculopathy sus... | DisGeNET | Detail |
| Multifactor effects and evidence of potential interaction between complement factor H Y402H and LOC3... | DisGeNET | Detail |
| Although genetic markers were associated significantly with 3-year CNV (CFH: Y402H; ARMS2: A69S) and... | DisGeNET | Detail |
| Further support for the common variants in complement factor H (Y402H) and LOC387715 (A69S) genes as... | DisGeNET | Detail |
| To investigate whether the major genetic and environmental risk factors of age-related macular degen... | DisGeNET | Detail |
| 1093 patients with exudative AMD and 396 controls have been recruited and genotyped for the Y402H of... | DisGeNET | Detail |
| After multivariate adjustment, CFH Y402H and ARMS2 A69S polymorphisms were associated with very high... | DisGeNET | Detail |
| To explore the association between polymorphisms in the complement component 3 (C3) gene and age-rel... | DisGeNET | Detail |
| To confirm association of the complement factor H allelic variant (CFH Y402H) and the LOC387715/HTRA... | DisGeNET | Detail |
| Rapid detection of CFH (p.Y402H) and ARMS2 (p.A69S) polymorphisms in age-related macular degeneratio... | DisGeNET | Detail |
| Although genetic markers were associated significantly with 3-year CNV (CFH: Y402H; ARMS2: A69S) and... | DisGeNET | Detail |
| 1093 patients with exudative AMD and 396 controls have been recruited and genotyped for the Y402H of... | DisGeNET | Detail |
| Genotyping was performed for the Y402H variant of CFH, for the L9H, R32Q, and K565E variants of CFB,... | DisGeNET | Detail |
| Highly myopic elderly Japanese patients with and without CNV were genotyped for three AMD-associated... | DisGeNET | Detail |
| Sixty-nine patients being treated for neovascular AMD with PDT were genotyped for the CFH Y402H and ... | DisGeNET | Detail |
| To explore the association between polymorphisms in the complement component 3 (C3) gene and age-rel... | DisGeNET | Detail |
| Allele and genotype frequencies of single nucleotide polymorphisms for the following AMD-associated ... | DisGeNET | Detail |
| In our Southern California population, the ARMS2 (rs10490924) and CFH (rs1061170) genes were signifi... | DisGeNET | Detail |
| Allele and genotype frequencies of single nucleotide polymorphisms for the following AMD-associated ... | DisGeNET | Detail |
| In our Southern California population, the ARMS2 (rs10490924) and CFH (rs1061170) genes were signifi... | DisGeNET | Detail |
| Participants with 1 or 2 copies of the Y402H variant of CFH were, respectively, 1.98 (95% CI, 1.64-2... | DisGeNET | Detail |
| Thirty-three early AMD patients, screened for CFH (rs1061170) and ARMS2 (rs10490924) polymorphisms a... | DisGeNET | Detail |
| Highly myopic elderly Japanese patients with and without CNV were genotyped for three AMD-associated... | DisGeNET | Detail |
| Association of CFH Y402H and LOC387715 A69S with progression of age-related macular degeneration. | DisGeNET | Detail |
| Rapid detection of CFH (p.Y402H) and ARMS2 (p.A69S) polymorphisms in age-related macular degeneratio... | DisGeNET | Detail |
| We genotyped three SNPs, rs1061170 (exon 9, CFH), rs11200638 (HTRA1 promoter, -512 bp), and rs104909... | DisGeNET | Detail |
| Participants with 1 or 2 copies of the Y402H variant of CFH were, respectively, 1.98 (95% CI, 1.64-2... | DisGeNET | Detail |
| To determine whether gene polymorphisms of the major genetic risk factor for age-related macular sus... | DisGeNET | Detail |
| To investigate whether dietary nutrients can reduce the genetic risk of early age-related macular de... | DisGeNET | Detail |
| Our purpose was to assess influence of gene polymorphisms A69S (rs10490924) and R38X (rs2736911) ARM... | DisGeNET | Detail |
| Sixty-nine patients being treated for neovascular AMD with PDT were genotyped for the CFH Y402H and ... | DisGeNET | Detail |
| Sixty-nine patients being treated for neovascular AMD with PDT were genotyped for the CFH Y402H and ... | DisGeNET | Detail |
| Thirty-three early AMD patients, screened for CFH (rs1061170) and ARMS2 (rs10490924) polymorphisms a... | DisGeNET | Detail |
| The final model included the following independent variables: age, smoking history, family history o... | DisGeNET | Detail |
| After multivariate adjustment, CFH Y402H and ARMS2 A69S polymorphisms were associated with very high... | DisGeNET | Detail |
| After multivariate adjustment, CFH Y402H and ARMS2 A69S polymorphisms were associated with very high... | DisGeNET | Detail |
| We investigated the frequency of Tyr402His polymorphism of the complement factor H (CFH) gene, Ser69... | DisGeNET | Detail |
| In this study, we examined whether the gene-gene interactions between CRP haplotypes and CFH Tyr402H... | DisGeNET | Detail |
| Dividing the study group into subjects with bilateral soft drusen and unilateral soft drusen showed ... | DisGeNET | Detail |
| Complement factor H (CFH) Y402H polymorphism is located in a region that binds C-reactive protein an... | DisGeNET | Detail |
| The CFH Y402H polymorphism showed a genotype-phenotype association for some drusen features. | DisGeNET | Detail |
| After adjusting for age and other covariants, the CFH CC (Y402H polymorphism) genotype was associate... | DisGeNET | Detail |
| Analysis of CFH, TLR4, and APOE polymorphism in India suggests the Tyr402His variant of CFH to be a ... | DisGeNET | Detail |
| In addition, a specific Y402H polymorphism of the complement inhibitor factor H has been found to be... | DisGeNET | Detail |
| Complement factor H variant Y402H and basal laminar deposits in exudative age-related macular degene... | DisGeNET | Detail |
| Analysis of CFH, TLR4, and APOE polymorphism in India suggests the Tyr402His variant of CFH to be a ... | DisGeNET | Detail |
| The complement factor H (CFH) tyrosine 402 histidine (Y402H, rs1061170) variant is known to be signi... | DisGeNET | Detail |
| Complement factor H Y402H polymorphism and characteristics of exudative age-related macular degenera... | DisGeNET | Detail |
| This supports an autosomal-recessive disease model in which individuals who carry a CFH mutation on ... | DisGeNET | Detail |
| To incorporate the two most important known AMD risk factors--smoking and the Y402H variant of the c... | DisGeNET | Detail |
| CFH Y402H confers similar risk of soft drusen and both forms of advanced AMD. | DisGeNET | Detail |
| The most important genetic associations in AMD involved the complement factor H (CFH) gene, which sh... | DisGeNET | Detail |
| We detected no clear impact of the CFH Y402H polymorphism on recent exudative AMD lesion characteris... | DisGeNET | Detail |
| Complement factor H polymorphism p.Tyr402His and cuticular Drusen. | DisGeNET | Detail |
| Complement factor H (Y402H) polymorphism and risk of coronary heart disease in US men and women. | DisGeNET | Detail |
| The complement factor H (CFH) gene polymorphism Y402H (1277T-->C) has been associated with suscep... | DisGeNET | Detail |
| The seventh short complement regulator (SCR-7) domain of the 20 in FH is associated with age-related... | DisGeNET | Detail |
| The purpose of this study was to determine the pharmacogenetic effects of complement factor H (CFH) ... | DisGeNET | Detail |
| A common polymorphism in the complement factor H gene (rs1061170, Y402H) is associated with a high r... | DisGeNET | Detail |
| Association of complement factor H Y402H polymorphism with phenotype of neovascular age related macu... | DisGeNET | Detail |
| In patients with CD, the association with the CFH Y402H risk allele was significantly higher (p=0.02... | DisGeNET | Detail |
| Heritability and genome-wide association study to assess genetic differences between advanced age-re... | DisGeNET | Detail |
| To determine whether the complement factor H (CFH) tyrosine 402 histidine (Y402H) variant, recently ... | DisGeNET | Detail |
| The aim of this study was to assess the association between SSNHL and polymorphism of complement fac... | DisGeNET | Detail |
| In addition, a specific Y402H polymorphism of the complement inhibitor factor H has been found to be... | DisGeNET | Detail |
| The prevalence of homozygous carriers in regard to CFH Y402H polymorphism, which is suspicious for A... | DisGeNET | Detail |
| Functional and structural implications of the complement factor H Y402H polymorphism associated with... | DisGeNET | Detail |
| The data suggest that Taiwan Chinese carriers of the IL-8 +781 T allele, independent of the CFH Y402... | DisGeNET | Detail |
| Association of the Y402H polymorphism in complement factor H gene and neovascular age-related macula... | DisGeNET | Detail |
| Comprehensive analysis of CRP, CFH Y402H and environmental risk factors on risk of neovascular age-r... | DisGeNET | Detail |
| Association of the complement factor H Y402H polymorphism with cardiovascular disease is dependent u... | DisGeNET | Detail |
| Complement factor H Y402H variant and risk of age-related macular degeneration in Asians: a systemat... | DisGeNET | Detail |
| Association between variant Y402H in age-related macular degeneration (AMD) susceptibility gene CFH ... | DisGeNET | Detail |
| Both VEGF +936 C/T and CFH Y402H polymorphisms are dependently associated with wet AMD in the Taiwan... | DisGeNET | Detail |
| Complement factor H Y402H decreases cardiovascular disease risk in patients with familial hyperchole... | DisGeNET | Detail |
| Age-related macular degeneration and association of CFH Y402H and LOC387715 A69S polymorphisms in a ... | DisGeNET | Detail |
| There was a trend for association between the CFH Y402H T allele (low risk for AMD, n = 6) and impro... | DisGeNET | Detail |
| Association of the complement factor H Y402H polymorphism with cardiovascular disease is dependent u... | DisGeNET | Detail |
| A prospective assessment of the Y402H variant in complement factor H, genetic variants in C-reactive... | DisGeNET | Detail |
| Homozygosity for the complement factor H Y402H polymorphism, which is thought to reduce complement i... | DisGeNET | Detail |
| The prevalence of homozygous carriers in regard to CFH Y402H polymorphism, which is suspicious for A... | DisGeNET | Detail |
| No associations appeared between HIF1A SNPs and AMD, which were studied here for the first time; how... | DisGeNET | Detail |
| Comprehensive analysis of CRP, CFH Y402H and environmental risk factors on risk of neovascular age-r... | DisGeNET | Detail |
| To determine serum vascular endothelial growth factor 165 (VEGF165) levels and the association of th... | DisGeNET | Detail |
| Effect of the Y402H variant in the complement factor H gene on the incidence and progression of age-... | DisGeNET | Detail |
| Moreover, in exploratory analyses, we identified a number of possible interactions including between... | DisGeNET | Detail |
| [implicate different biologic pathways than previously reported and provide new avenues for preventi... | DisGeNET | Detail |
| We, therefore, evaluated the CFH genetic variant Y402H amongst 685 Caucasian individuals who subsequ... | DisGeNET | Detail |
| To determine serum vascular endothelial growth factor 165 (VEGF165) levels and the association of th... | DisGeNET | Detail |
| A FH Tyr402His polymorphism in SCR-7 is associated with age-related macular degeneration (AMD) and l... | DisGeNET | Detail |
| The data suggest that Taiwan Chinese carriers of the IL-8 +781 T allele, independent of the CFH Y402... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The joint effects for complement factor H (CFH) Y402H and 10q26 variants indicated an increased risk... | DisGeNET | Detail |
| Contribution of complement factor H Y402H polymorphism to sudden sensorineural hearing loss risk and... | DisGeNET | Detail |
| The Y402H variant of complement factor H is associated with age-related macular degeneration but not... | DisGeNET | Detail |
| Peripheral reticular pigmentary change is associated with complement factor H polymorphism (Y402H) i... | DisGeNET | Detail |
| CFH Y402H confers similar risk of soft drusen and both forms of advanced AMD. | DisGeNET | Detail |
| Homozygotes of CFH Y402H with dietary intake of zinc in the highest tertile reduced their hazard rat... | DisGeNET | Detail |
| Contribution of complement factor H Y402H polymorphism to sudden sensorineural hearing loss risk and... | DisGeNET | Detail |
| Complement factor H variant p.Y402H in pseudoxanthoma elasticum patients. | DisGeNET | Detail |
| We, therefore, evaluated the CFH genetic variant Y402H amongst 685 Caucasian individuals who subsequ... | DisGeNET | Detail |
| Complement factor H Y402H decreases cardiovascular disease risk in patients with familial hyperchole... | DisGeNET | Detail |
| After adjusting for CFH Y402H genotype, age, sex and smoking history, the level of sTNFRII remained ... | DisGeNET | Detail |
| The aMeDi score was significantly associated with a lower risk of incident advanced AMD among subjec... | DisGeNET | Detail |
| To evaluate a possible association between the complement factor H (CFH) Y402H polymorphism and susc... | DisGeNET | Detail |
| However with the recent finding of the Tyr402His polymorphism in the complement factor H gene being ... | DisGeNET | Detail |
| A strong association between a coding variant, Y402H, in the complement factor H gene (CFH) and AMD ... | DisGeNET | Detail |
| Analysis of complement factor H Y402H, LOC387715, HTRA1 polymorphisms and ApoE alleles with suscepti... | DisGeNET | Detail |
| Association of complement factor H tyrosine 402 histidine genotype with posterior involvement in sar... | DisGeNET | Detail |
| Systematic review and meta-analysis of the association between complement factor H Y402H polymorphis... | DisGeNET | Detail |
| Furthermore, the C allele of the CFH rs1061170, but not the CFB rs4151667 and rs641153, was signific... | DisGeNET | Detail |
| To determine whether the complement factor H (CFH) tyrosine 402 histidine (Y402H) variant, recently ... | DisGeNET | Detail |
| Complement factor H Y402H polymorphism, plasma concentration and risk of coronary artery disease. | DisGeNET | Detail |
| We genotyped three SNPs in the CFH gene cluster that are closely linked to age-related macular degen... | DisGeNET | Detail |
| Carriage of the CFH Y402H polymorphism in both alleles is associated with an increased risk for post... | DisGeNET | Detail |
| Our data did not show significant association between the CFH Y402H polymorphism and PDT treatment r... | DisGeNET | Detail |
| Analysis of the Y402H variant of the complement factor H gene in age-related macular degeneration. | DisGeNET | Detail |
| We genotyped three SNPs in the CFH gene cluster that are closely linked to age-related macular degen... | DisGeNET | Detail |
| Association of CFH Y402H polymorphism with both forms of advanced age-related macular degeneration i... | DisGeNET | Detail |
| Deletion of both copies of CFHR3 and CFHR1 decreased the odds of having AMD eightfold (95% CI 2-36) ... | DisGeNET | Detail |
| Ethnic variation in AMD-associated complement factor H polymorphism p.Tyr402His. | DisGeNET | Detail |
| The high AMD prevalence observed in LT patients may be associated with the increased frequency of th... | DisGeNET | Detail |
| To determine serum vascular endothelial growth factor 165 (VEGF165) levels and the association of th... | DisGeNET | Detail |
| The purpose of this study was to determine the pharmacogenetic effects of complement factor H (CFH) ... | DisGeNET | Detail |
| Pharmacogenetics of complement factor H (Y402H) and treatment of exudative age-related macular degen... | DisGeNET | Detail |
| Age-related macular degeneration (AMD) is a multifactorial disease that is strongly associated with ... | DisGeNET | Detail |
| To determine serum vascular endothelial growth factor 165 (VEGF165) levels and the association of th... | DisGeNET | Detail |
| Y402H polymorphism in complement factor H and age-related macular degeneration in the Tunisian popul... | DisGeNET | Detail |
| Genotypes of 3 polymorphisms in known AMD susceptibility loci (rs1061170 in complement factor H (CFH... | DisGeNET | Detail |
| To determine serum vascular endothelial growth factor 165 (VEGF165) levels and the association of th... | DisGeNET | Detail |
| Homozygosity for the complement factor H Y402H polymorphism, which is thought to reduce complement i... | DisGeNET | Detail |
| Analysis of complement factor H Y402H, LOC387715, HTRA1 polymorphisms and ApoE alleles with suscepti... | DisGeNET | Detail |
| Y402H complement factor H polymorphism associated with exudative age-related macular degeneration in... | DisGeNET | Detail |
| The Y402H polymorphism of CFH seems to be associated with ocular sarcoidosis in black and white pers... | DisGeNET | Detail |
| The Y402H variant of complement factor H is associated with age-related macular degeneration but not... | DisGeNET | Detail |
| An ecological correlation study of late age-related macular degeneration and the complement factor H... | DisGeNET | Detail |
| Complement factor H Y402H gene polymorphism and coronary heart disease susceptibility: a meta-analys... | DisGeNET | Detail |
| Furthermore, the HS binding site in CCP6-8, which is affected by the AMD-associated Y402H polymorphi... | DisGeNET | Detail |
| Complement factor H (Y402H) polymorphism and risk of coronary heart disease in US men and women. | DisGeNET | Detail |
| Analysis of complement factor H Y402H, LOC387715, HTRA1 polymorphisms and ApoE alleles with suscepti... | DisGeNET | Detail |
| Complement factor H Y402H gene polymorphism and response to intravitreal bevacizumab in exudative ag... | DisGeNET | Detail |
| CFH-rs1061170 was significantly related to the development of early (OR = 1.94, 95% confidence inter... | DisGeNET | Detail |
| Complement factor H variant Y402H is a major risk determinant for geographic atrophy and choroidal n... | DisGeNET | Detail |
| A total of 5,520 participants without history of coronary heart disease was genotyped for the Tyr402... | DisGeNET | Detail |
| Assessment of the contribution of the LOC387715 gene polymorphism in a family with exudative age-rel... | DisGeNET | Detail |
| Y402H polymorphism which has been suggested to be a major risk factor of AMD in Caucasians was found... | DisGeNET | Detail |
| Our data suggest that the CFH Y402H polymorphism is a major risk factor for exudative AMD in a Centr... | DisGeNET | Detail |
| A 32 kb critical region excluding Y402H in CFH mediates risk for age-related macular degeneration. | DisGeNET | Detail |
| Genome-wide association study of advanced age-related macular degeneration identifies a role of the ... | DisGeNET | Detail |
| Genotypes of 3 polymorphisms in known AMD susceptibility loci (rs1061170 in complement factor H (CFH... | DisGeNET | Detail |
| The aim of the present study was to test for an association between the CFH-Y402H variant and MI in ... | DisGeNET | Detail |
| A total of 5,520 participants without history of coronary heart disease was genotyped for the Tyr402... | DisGeNET | Detail |
| CFH Y402H confers similar risk of soft drusen and both forms of advanced AMD. | DisGeNET | Detail |
| The complement factor H Y402H variant was significantly increased in dense deposit disease. | DisGeNET | Detail |
| The effect of complement factor H Y402H polymorphism on the outcome of photodynamic therapy in age-r... | DisGeNET | Detail |
| There was a trend for association between the CFH Y402H T allele (low risk for AMD, n = 6) and impro... | DisGeNET | Detail |
| Moreover, in exploratory analyses, we identified a number of possible interactions including between... | DisGeNET | Detail |
| Complement factor H Y402H and C-reactive protein polymorphism and photodynamic therapy response in a... | DisGeNET | Detail |
| The c.1204T>C, p.Tyr402His allelic variant in the CFH gene is associated with a 3-fold increased ... | DisGeNET | Detail |
| The M protein binding site on FH is within domain 7 in which also the age-related macular degenerati... | DisGeNET | Detail |
| Association between CFH Y402H polymorphism and age related macular degeneration in North Indian coho... | DisGeNET | Detail |
| Our findings indicate that CFH (rs1061170) polymorphism impacts significantly on retinal function in... | DisGeNET | Detail |
| Carriage of the CFH Y402H polymorphism in both alleles is associated with an increased risk for post... | DisGeNET | Detail |
| We review recent developments in molecular genetics; SNPs, including Y402H; the three-dimensional st... | DisGeNET | Detail |
| AMD patients with risk variants at rs1061170 (CFH:p.Y402H) and ARMS2 and smokers (≥20 packs/year) we... | DisGeNET | Detail |
| Genotype distribution of rs1061170 (CFH), rs429608 (SKIV2L), rs2679798 (MYRIP) and both rs11549465 a... | DisGeNET | Detail |
| Our data suggest that the CFH Tyr402His is not a major risk factor for overall early AMD in this Lat... | DisGeNET | Detail |
| Defective complement control of factor H (Y402H) and FHL-1 in age-related macular degeneration. | DisGeNET | Detail |
| A prospective assessment of the Y402H variant in complement factor H, genetic variants in C-reactive... | DisGeNET | Detail |
| Furthermore, the HS binding site in CCP6-8, which is affected by the AMD-associated Y402H polymorphi... | DisGeNET | Detail |
| Patients with T2DM (n = 2350) were genotyped for the CFH Y402H variant. | DisGeNET | Detail |
| Ethnic variation in AMD-associated complement factor H polymorphism p.Tyr402His. | DisGeNET | Detail |
| The Tyr402His variant of complement factor H (CFH) is associated with age-related macular degenerati... | DisGeNET | Detail |
| Moreover, in exploratory analyses, we identified a number of possible interactions including between... | DisGeNET | Detail |
| Complement factor H Y402H polymorphism, plasma concentration and risk of coronary artery disease. | DisGeNET | Detail |
| The purpose of this study was to determine the pharmacogenetic effects of complement factor H (CFH) ... | DisGeNET | Detail |
| Furthermore, the C allele of the CFH rs1061170, but not the CFB rs4151667 and rs641153, was signific... | DisGeNET | Detail |
| Moreover, in exploratory analyses, we identified a number of possible interactions including between... | DisGeNET | Detail |
| We postulated that the functional Y402H polymorphism within the CFH gene and unambiguously recognise... | DisGeNET | Detail |
| Association of complement factor H tyrosine 402 histidine genotype with posterior involvement in sar... | DisGeNET | Detail |
| Genotypes of 3 polymorphisms in known AMD susceptibility loci (rs1061170 in complement factor H (CFH... | DisGeNET | Detail |
| Association of complement factor H Y402H gene polymorphism with different subtypes of exudative age-... | DisGeNET | Detail |
| Homozygosity for the complement factor H Y402H polymorphism, which is thought to reduce complement i... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Our data suggest that the CFH Y402H polymorphism is a major risk factor for exudative AMD in a Centr... | DisGeNET | Detail |
| Our data did not show significant association between the CFH Y402H polymorphism and PDT treatment r... | DisGeNET | Detail |
| Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degenera... | DisGeNET | Detail |
| Complement factor H Y402H and C-reactive protein polymorphism and photodynamic therapy response in a... | DisGeNET | Detail |
| Significant allelic or genotypic associations between 8 C5 SNPs and AMD were found in the AMRO-NL st... | DisGeNET | Detail |
| AMD patients with risk variants at rs1061170 (CFH:p.Y402H) and ARMS2 and smokers (≥20 packs/year) we... | DisGeNET | Detail |
| The Y402H polymorphism in FH is a risk factor for age-related macular degeneration. | DisGeNET | Detail |
| CFH gene variant, Y402H, and smoking, body mass index, environmental associations with advanced age-... | DisGeNET | Detail |
| The complement factor H (CFH) variant c.1277T > C (p.Y402H) is a recently discovered risk factor ... | DisGeNET | Detail |
| Complement factor H Y402H polymorphism, plasma concentration and risk of coronary artery disease. | DisGeNET | Detail |
| Assessment of the contribution of the LOC387715 gene polymorphism in a family with exudative age-rel... | DisGeNET | Detail |
| Y402H polymorphism which has been suggested to be a major risk factor of AMD in Caucasians was found... | DisGeNET | Detail |
| In this study, we examined whether the gene-gene interactions between CRP haplotypes and CFH Tyr402H... | DisGeNET | Detail |
| The purpose of this study was to determine the pharmacogenetic effects of complement factor H (CFH) ... | DisGeNET | Detail |
| Relationship between systemic cytokines and complement factor H Y402H polymorphism in patients with ... | DisGeNET | Detail |
| Association of complement factor H Y402H polymorphism and age-related macular degeneration in Brazil... | DisGeNET | Detail |
| The joint effects for complement factor H (CFH) Y402H and 10q26 variants indicated an increased risk... | DisGeNET | Detail |
| The haplotype tagging Y402H polymorphism in the Complement Factor H gene (CFH) has consistently been... | DisGeNET | Detail |
| Independent effects of complement factor H Y402H polymorphism and cigarette smoking on risk of age-r... | DisGeNET | Detail |
| However, the association with the CFH Y402H risk allele appeared to be stronger, whereas the associa... | DisGeNET | Detail |
| These associations appear to be independent of the association of ARM with the Y402H allele of compl... | DisGeNET | Detail |
| Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-re... | DisGeNET | Detail |
| Furthermore, the C allele of the CFH rs1061170, but not the CFB rs4151667 and rs641153, was signific... | DisGeNET | Detail |
| The haplotype tagging Y402H polymorphism in the Complement Factor H gene (CFH) has consistently been... | DisGeNET | Detail |
| The decreased interaction between FH and CRP, which is essential for the anti-inflammatory function ... | DisGeNET | Detail |
| The purpose of this study was to determine the pharmacogenetic effects of complement factor H (CFH) ... | DisGeNET | Detail |
| Complement factor H Y402H gene polymorphism and coronary heart disease susceptibility: a meta-analys... | DisGeNET | Detail |
| In addition, a specific Y402H polymorphism of the complement inhibitor factor H has been found to be... | DisGeNET | Detail |
| Genotypes of 3 polymorphisms in known AMD susceptibility loci (rs1061170 in complement factor H (CFH... | DisGeNET | Detail |
| Clinical phenotypes associated with the complement factor H Y402H variant in age-related macular deg... | DisGeNET | Detail |
| Analysis of CFH, TLR4, and APOE polymorphism in India suggests the Tyr402His variant of CFH to be a ... | DisGeNET | Detail |
| A polymorphism in the CFH gene, Y402H, known to be strongly associated with age-related macular dege... | DisGeNET | Detail |
| CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-r... | DisGeNET | Detail |
| A Tyr402His variant in exon 9 in the complement factor H (CFH) gene was also significantly associate... | DisGeNET | Detail |
| Furthermore, the C allele of the CFH rs1061170, but not the CFB rs4151667 and rs641153, was signific... | DisGeNET | Detail |
| In Caucasian, a polymorphism of the complement factor H gene (CFH), the C allele of rs1061170 (Y402H... | DisGeNET | Detail |
| Simvastatin may slow progression of non-advanced AMD, especially for those with the at risk CFH geno... | DisGeNET | Detail |
| Individuals with the homozygous CFI rs10033900 TT genotype had a 2.9 [1.2-7.2]-fold increased risk, ... | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs1061170 dbSNP
- Genome
- hg38
- Position
- chr1:196,690,107-196,690,107
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1206
- Mean of sample read depth (HGVD)
- 48.30
- Standard deviation of sample read depth (HGVD)
- 21.11
- Number of reference allele (HGVD)
- 164
- Number of alternative allele (HGVD)
- 2247
- Allele Frequency (HGVD)
- 0.931978432185815
- Gene Symbol (HGVD)
- CFH
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs1061170
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.9332
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 15640
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8548
- East Asian Allele Counts (ExAC)
- 8126
- East Asian Heterozygous Counts (ExAC)
- 392
- East Asian Homozygous Counts (ExAC)
- 3867
- East Asian Allele Frequency (ExAC)
- 0.9506317267197005
- Chromosome Counts in All Race (ExAC)
- 120234
- Allele Counts in All Race (ExAC)
- 80806
- Heterozygous Counts in All Race (ExAC)
- 25270
- Homozygous Counts in All Race (ExAC)
- 27768
- Allele Frequency in All Race (ExAC)
- 0.6720727913901225
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