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rs431825417

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs431825417(C;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position43047640
GeneBRCA1
is asnp
is mentioned by
dbSNPrs431825417
dbSNP (classic)rs431825417
ClinGenrs431825417
ebirs431825417
HLIrs431825417
Exacrs431825417
Gnomadrs431825417
Varsomers431825417
LitVarrs431825417
Maprs431825417
PheGenIrs431825417
Biobankrs431825417
1000 genomesrs431825417
hgdprs431825417
ensemblrs431825417
geneviewrs431825417
scholarrs431825417
googlers431825417
pharmgkbrs431825417
gwascentralrs431825417
openSNPrs431825417
23andMers431825417
SNPshotrs431825417
SNPdbers431825417
MSV3drs431825417
GWAS Ctlgrs431825417
Max Magnitude6
ClinVar
Risk rs431825417(C;C)
Alt rs431825417(C;C)
Reference Rs431825417(A;A)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41199657T>G
CLNSRC ClinVar
CLNACC RCV000083072.2,