chr1:196642233:G>A Detail (hg19) (CFH)

Information

Genome

Assembly Position
hg19 chr1:196,642,233-196,642,233
hg38 chr1:196,673,103-196,673,103 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001014975.2:c.184G>A NP_001014975.1:p.Val62Ile
NM_000186.3:c.184G>A NP_000177.2:p.Val62Ile
Ensemble ENST00000695968.1:c.184G>A ENST00000695968.1: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 Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 134370 OMIM
HGNC 4883 HGNC
Ensembl ENSG00000000971 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv4306356 TogoVar
COSMIC
MONDO
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 age related macular degeneration 4 germline Detail
Benign 2024-02-01 criteria provided, multiple submitters, no conflicts not provided germline not provided Detail
Benign 2021-07-22 criteria provided, multiple submitters, no conflicts basal laminar drusen germline unknown 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
Benign 2021-07-22 criteria provided, single submitter Factor H deficiency germline Detail
Benign 2022-09-27 criteria provided, single submitter germline 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&gt;A, I62V) in the comple... BeFree 24520367 Detail
0.480 age related macular degeneration An example is the polymorphism Ile62Val (rs800292 (A&gt;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

DescrptionSourceLinks
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&gt;A, I62V) in the complement factor H gene i... DisGeNET Detail
An example is the polymorphism Ile62Val (rs800292 (A&gt;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
hg19
Position
chr1:196,642,233-196,642,233
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
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