chr1:196713817:G>A Detail (hg38) (CFH)

Information

Genome

Assembly Position
hg19 chr1:196,682,947-196,682,947 View the variant detail on this assembly version.
hg38 chr1:196,713,817-196,713,817

HGVS

Type Transcript Protein
RefSeq NM_000186.3:c.1419G>A NP_000177.2:p.Ala473=
Ensemble ENST00000367429.9:c.1419G>A ENST00000367429.9:p.Ala473=
ENST00000695969.1:c.1419G>A ENST00000695969.1:p.Ala473=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.454
ToMMo:0.442
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.436

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 tgv4307707 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 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, multiple submitters, no conflicts basal laminar drusen germline Detail
Benign 2024-02-01 criteria provided, multiple submitters, no conflicts 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
0.319 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
0.002 Hypertensive disease Notably, the associations of rs2274700 (A473A) with DBP (P = 2.1×10(-3)), SBP (P... BeFree 22848687 Detail
0.002 Hypertensive disease Notably, the associations of rs2274700 (A473A) with DBP (P = 2.1×10(-3)), SBP (P... BeFree 22848687 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
0.480 age related macular degeneration We genotyped three SNPs in the CFH gene cluster that are closely linked to age-r... BeFree 22848687 Detail
0.440 MACULAR DEGENERATION, AGE-RELATED, 4 (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000186.4(CFH):c.1419G>A (p.Ala473=) AND Age related macular degeneration 4 ClinVar Detail
NM_000186.4(CFH):c.1419G>A (p.Ala473=) AND CFH-Related Dense Deposit Disease / Membranoproliferative... ClinVar Detail
NM_000186.4(CFH):c.1419G>A (p.Ala473=) AND Hemolytic uremic syndrome, atypical, susceptibility to, 1 ClinVar Detail
NM_000186.4(CFH):c.1419G>A (p.Ala473=) AND Basal laminar drusen ClinVar Detail
NM_000186.4(CFH):c.1419G>A (p.Ala473=) AND not provided ClinVar Detail
NM_000186.4(CFH):c.1419G>A (p.Ala473=) AND Factor H deficiency ClinVar Detail
NM_000186.4(CFH):c.1419G>A (p.Ala473=) AND Atypical hemolytic-uremic syndrome ClinVar 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
Notably, the associations of rs2274700 (A473A) with DBP (P = 2.1×10(-3)), SBP (P = 8×10(-5)) and hyp... DisGeNET Detail
Notably, the associations of rs2274700 (A473A) with DBP (P = 2.1×10(-3)), SBP (P = 8×10(-5)) and hyp... DisGeNET Detail
We genotyped three SNPs in the CFH gene cluster that are closely linked to age-related macular degen... DisGeNET Detail
We genotyped three SNPs in the CFH gene cluster that are closely linked to age-related macular degen... DisGeNET Detail
NA 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
rs2274700 dbSNP
Genome
hg38
Position
chr1:196,713,817-196,713,817
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1059
Mean of sample read depth (HGVD)
59.77
Standard deviation of sample read depth (HGVD)
24.65
Number of reference allele (HGVD)
1155
Number of alternative allele (HGVD)
962
Allele Frequency (HGVD)
0.454416627302787
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))
rs2274700
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4415
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7400
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8534
East Asian Allele Counts (ExAC)
3720
East Asian Heterozygous Counts (ExAC)
2068
East Asian Homozygous Counts (ExAC)
826
East Asian Allele Frequency (ExAC)
0.435903445043356
Chromosome Counts in All Race (ExAC)
120670
Allele Counts in All Race (ExAC)
53468
Heterozygous Counts in All Race (ExAC)
29448
Homozygous Counts in All Race (ExAC)
12010
Allele Frequency in All Race (ExAC)
0.4430927322449656
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