chr1:196673103:G>A Detail (hg38) (CFH)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:196,642,233-196,642,233 View the variant detail on this assembly version. |
hg38 | chr1:196,673,103-196,673,103 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000186.3:c.184G>A | NP_000177.2:p.Val62Ile |
NM_001014975.2:c.184G>A | NP_001014975.1:p.Val62Ile | |
Ensemble | ENST00000359637.3:c.184G>A | ENST00000359637.3:p.Val62Ile |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:0.412 |
ToMMo:0.398 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.419 |
Prediction
ClinVar
Clinical Significance |
![]() |
Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
![]() |
2021-07-22 | criteria provided, multiple submitters, no conflicts | age related macular degeneration 4 |
![]() |
Detail |
![]() |
2024-02-01 | criteria provided, multiple submitters, no conflicts | not provided |
![]() ![]() |
Detail |
![]() |
2021-07-22 | criteria provided, multiple submitters, no conflicts | basal laminar drusen |
![]() ![]() |
Detail |
![]() |
2017-04-27 | criteria provided, single submitter | CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II |
![]() |
Detail |
![]() |
2021-07-22 | criteria provided, multiple submitters, no conflicts | Hemolytic uremic syndrome, atypical, susceptibility to, 1 |
![]() |
Detail |
![]() |
2021-07-22 | criteria provided, single submitter | Factor H deficiency |
![]() |
Detail |
![]() |
2022-09-27 | criteria provided, single submitter |
![]() |
Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
<0.001 | diabetes mellitus | Lower C3d/C3 ratios were found for diabetes (p = 2.87 × 10(-6)), higher body mas... | BeFree | 24675670 | Detail |
<0.001 | Diabetes | Lower C3d/C3 ratios were found for diabetes (p = 2.87 × 10(-6)), higher body mas... | BeFree | 24675670 | Detail |
<0.001 | diabetes mellitus | Lower C3d/C3 ratios were found for diabetes (p = 2.87 × 10(-6)), higher body mas... | BeFree | 24675670 | Detail |
<0.001 | Diabetes | Lower C3d/C3 ratios were found for diabetes (p = 2.87 × 10(-6)), higher body mas... | BeFree | 24675670 | Detail |
0.404 | age related macular degeneration | In addition to CFH (rs800292, P = 4.23 × 10(-15)) and ARMS2 (rs3750847, P = 8.67... | BeFree | 21909106 | Detail |
0.480 | age related macular degeneration | In addition to CFH (rs800292, P = 4.23 × 10(-15)) and ARMS2 (rs3750847, P = 8.67... | BeFree | 21909106 | 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 |
<0.001 | diabetic retinopathy | CFH-rs800292 and CFB-rs1048709 are associated with the presence of DR, which str... | BeFree | 23864767 | Detail |
0.404 | age related macular degeneration | Genotype distributions of ARMS2 (A69S) and CFH (I62V) in patients with CVH and t... | BeFree | 24781946 | Detail |
0.480 | age related macular degeneration | Genotype distributions of ARMS2 (A69S) and CFH (I62V) in patients with CVH and t... | BeFree | 24781946 | Detail |
0.480 | age related macular degeneration | The major AMD-associated single nucleotide polymorphisms (CFH Y402 rs1061170, CF... | BeFree | 23111182 | Detail |
0.404 | age related macular degeneration | Furthermore, an independent association of C2/CFB variants was found for both ty... | BeFree | 22232432 | Detail |
0.404 | age related macular degeneration | Korean individuals with the LOC387715/ARMS2 rs10490924, and to a lesser extent, ... | BeFree | 23289807 | Detail |
0.480 | age related macular degeneration | Furthermore, an independent association of C2/CFB variants was found for both ty... | BeFree | 22232432 | Detail |
0.404 | age related macular degeneration | This was true for all AMD subtype analyses of both rs800292 (complement factor H... | BeFree | 22065928 | Detail |
0.480 | age related macular degeneration | The presence or absence of RPD was studied among 408 patients with exudative AMD... | BeFree | 24595987 | Detail |
0.480 | age related macular degeneration | Rs429608 inSKIV2L, rs800292 in complement factor H (CFH), rs10490924 in age-rela... | BeFree | 24865191 | Detail |
0.480 | age related macular degeneration | Korean individuals with the LOC387715/ARMS2 rs10490924, and to a lesser extent, ... | BeFree | 23289807 | Detail |
0.126 | Membranoproliferative Glomerulonephritis, Type II | Here, we investigate the consequences of aHUS-linked mutations (R53H and R78G) w... | BeFree | 21270465 | Detail |
0.131 | Exudative age-related macular degeneration | To investigate whether the polymorphism rs800292 (184G>A, I62V) in the comple... | BeFree | 24520367 | Detail |
0.480 | age related macular degeneration | An example is the polymorphism Ile62Val (rs800292 (A>G)) in the complement re... | BeFree | 21899915 | Detail |
0.480 | age related macular degeneration | Here, we investigate the consequences of aHUS-linked mutations (R53H and R78G) w... | BeFree | 21270465 | Detail |
0.011 | macular degeneration | Combined heterozygous risk alleles of CFH rs800292 GA and FPR1 rs78488639 CA wer... | BeFree | 25277308 | Detail |
0.480 | age related macular degeneration | Combined heterozygous risk alleles of CFH rs800292 GA and FPR1 rs78488639 CA wer... | BeFree | 25277308 | Detail |
0.440 | MACULAR DEGENERATION, AGE-RELATED, 4 (disorder) | NA | CLINVAR | Detail | |
0.480 | age related macular degeneration | Eight single nucleotide polymorphisms (SNPs) from 6 genes of the HDL metabolism ... | BeFree | 24393350 | Detail |
0.005 | macular degeneration | Eight single nucleotide polymorphisms (SNPs) from 6 genes of the HDL metabolism ... | BeFree | 24393350 | Detail |
0.480 | age related macular degeneration | Subject I:2 with AMD carried both at-risk genotypes at HTRA1 rs11200638 and CFH ... | BeFree | 19933189 | Detail |
0.267 | age related macular degeneration | The association of SKIV2L rs429608 with neovascular AMD remained significant aft... | BeFree | 23260260 | Detail |
0.480 | age related macular degeneration | The association of SKIV2L rs429608 with neovascular AMD remained significant aft... | BeFree | 23260260 | Detail |
0.011 | macular degeneration | Eight single nucleotide polymorphisms (SNPs) from 6 genes of the HDL metabolism ... | BeFree | 24393350 | Detail |
0.267 | age related macular degeneration | Subject I:2 with AMD carried both at-risk genotypes at HTRA1 rs11200638 and CFH ... | BeFree | 19933189 | Detail |
0.005 | macular degeneration | The association of SKIV2L rs429608 with neovascular AMD remained significant aft... | BeFree | 23260260 | Detail |
0.011 | macular degeneration | The association of SKIV2L rs429608 with neovascular AMD remained significant aft... | BeFree | 23260260 | Detail |
0.267 | age related macular degeneration | Eight single nucleotide polymorphisms (SNPs) from 6 genes of the HDL metabolism ... | BeFree | 24393350 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000186.4(CFH):c.184G>A (p.Val62Ile) AND Age related macular degeneration 4 | ClinVar | Detail |
NM_000186.4(CFH):c.184G>A (p.Val62Ile) AND not provided | ClinVar | Detail |
NM_000186.4(CFH):c.184G>A (p.Val62Ile) AND Basal laminar drusen | ClinVar | Detail |
NM_000186.4(CFH):c.184G>A (p.Val62Ile) AND CFH-Related Dense Deposit Disease / Membranoproliferative... | ClinVar | Detail |
NM_000186.4(CFH):c.184G>A (p.Val62Ile) AND Hemolytic uremic syndrome, atypical, susceptibility to, 1 | ClinVar | Detail |
NM_000186.4(CFH):c.184G>A (p.Val62Ile) AND Factor H deficiency | ClinVar | Detail |
NM_000186.4(CFH):c.184G>A (p.Val62Ile) AND Focal segmental glomerulosclerosis | ClinVar | Detail |
Lower C3d/C3 ratios were found for diabetes (p = 2.87 × 10(-6)), higher body mass index (p = 1.00 × ... | DisGeNET | Detail |
Lower C3d/C3 ratios were found for diabetes (p = 2.87 × 10(-6)), higher body mass index (p = 1.00 × ... | DisGeNET | Detail |
Lower C3d/C3 ratios were found for diabetes (p = 2.87 × 10(-6)), higher body mass index (p = 1.00 × ... | DisGeNET | Detail |
Lower C3d/C3 ratios were found for diabetes (p = 2.87 × 10(-6)), higher body mass index (p = 1.00 × ... | DisGeNET | Detail |
In addition to CFH (rs800292, P = 4.23 × 10(-15)) and ARMS2 (rs3750847, P = 8.67 × 10(-29)) loci, we... | DisGeNET | Detail |
In addition to CFH (rs800292, P = 4.23 × 10(-15)) and ARMS2 (rs3750847, P = 8.67 × 10(-29)) loci, we... | 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 |
CFH-rs800292 and CFB-rs1048709 are associated with the presence of DR, which strengthens the concept... | DisGeNET | Detail |
Genotype distributions of ARMS2 (A69S) and CFH (I62V) in patients with CVH and type 1 CNV significan... | DisGeNET | Detail |
Genotype distributions of ARMS2 (A69S) and CFH (I62V) in patients with CVH and type 1 CNV significan... | DisGeNET | Detail |
The major AMD-associated single nucleotide polymorphisms (CFH Y402 rs1061170, CFH I62V rs800292, and... | DisGeNET | Detail |
Furthermore, an independent association of C2/CFB variants was found for both typical AMD and PCV wi... | DisGeNET | Detail |
Korean individuals with the LOC387715/ARMS2 rs10490924, and to a lesser extent, CFH rs800292 variant... | DisGeNET | Detail |
Furthermore, an independent association of C2/CFB variants was found for both typical AMD and PCV wi... | DisGeNET | Detail |
This was true for all AMD subtype analyses of both rs800292 (complement factor H) and rs10490924 (AR... | DisGeNET | Detail |
The presence or absence of RPD was studied among 408 patients with exudative AMD in at least one eye... | DisGeNET | Detail |
Rs429608 inSKIV2L, rs800292 in complement factor H (CFH), rs10490924 in age-related maculopathy susc... | DisGeNET | Detail |
Korean individuals with the LOC387715/ARMS2 rs10490924, and to a lesser extent, CFH rs800292 variant... | DisGeNET | Detail |
Here, we investigate the consequences of aHUS-linked mutations (R53H and R78G) within the FH N-termi... | DisGeNET | Detail |
To investigate whether the polymorphism rs800292 (184G>A, I62V) in the complement factor H gene i... | DisGeNET | Detail |
An example is the polymorphism Ile62Val (rs800292 (A>G)) in the complement regulator Factor H gen... | DisGeNET | Detail |
Here, we investigate the consequences of aHUS-linked mutations (R53H and R78G) within the FH N-termi... | DisGeNET | Detail |
Combined heterozygous risk alleles of CFH rs800292 GA and FPR1 rs78488639 CA were posed to PCV (P=2.... | DisGeNET | Detail |
Combined heterozygous risk alleles of CFH rs800292 GA and FPR1 rs78488639 CA were posed to PCV (P=2.... | DisGeNET | Detail |
NA | DisGeNET | Detail |
Eight single nucleotide polymorphisms (SNPs) from 6 genes of the HDL metabolism pathway and 2 known ... | DisGeNET | Detail |
Eight single nucleotide polymorphisms (SNPs) from 6 genes of the HDL metabolism pathway and 2 known ... | DisGeNET | Detail |
Subject I:2 with AMD carried both at-risk genotypes at HTRA1 rs11200638 and CFH rs800292. | DisGeNET | Detail |
The association of SKIV2L rs429608 with neovascular AMD remained significant after adjusting for CFH... | DisGeNET | Detail |
The association of SKIV2L rs429608 with neovascular AMD remained significant after adjusting for CFH... | DisGeNET | Detail |
Eight single nucleotide polymorphisms (SNPs) from 6 genes of the HDL metabolism pathway and 2 known ... | DisGeNET | Detail |
Subject I:2 with AMD carried both at-risk genotypes at HTRA1 rs11200638 and CFH rs800292. | DisGeNET | Detail |
The association of SKIV2L rs429608 with neovascular AMD remained significant after adjusting for CFH... | DisGeNET | Detail |
The association of SKIV2L rs429608 with neovascular AMD remained significant after adjusting for CFH... | DisGeNET | Detail |
Eight single nucleotide polymorphisms (SNPs) from 6 genes of the HDL metabolism pathway and 2 known ... | 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
- rs800292 dbSNP
- Genome
- hg38
- Position
- chr1:196,673,103-196,673,103
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 110.14
- Standard deviation of sample read depth (HGVD)
- 47.40
- Number of reference allele (HGVD)
- 1424
- Number of alternative allele (HGVD)
- 996
- Allele Frequency (HGVD)
- 0.4115702479338843
- 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))
- rs800292
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3985
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 6679
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8618
- East Asian Allele Counts (ExAC)
- 3611
- East Asian Heterozygous Counts (ExAC)
- 2073
- East Asian Homozygous Counts (ExAC)
- 769
- East Asian Allele Frequency (ExAC)
- 0.4190067300997911
- Chromosome Counts in All Race (ExAC)
- 120934
- Allele Counts in All Race (ExAC)
- 38814
- Heterozygous Counts in All Race (ExAC)
- 24042
- Homozygous Counts in All Race (ExAC)
- 7386
- Allele Frequency in All Race (ExAC)
- 0.3209519241900541
Genome browser