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rs81002812

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 6 BRCA2 variant considered pathogenic for breast cancer
(C;G) 6 BRCA2 variant considered pathogenic for breast cancer
(G;G) 0 common in clinvar


Make rs81002812(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32379316
GeneBRCA2
is asnp
is mentioned by
dbSNPrs81002812
dbSNP (classic)rs81002812
ClinGenrs81002812
ebirs81002812
HLIrs81002812
Exacrs81002812
Gnomadrs81002812
Varsomers81002812
LitVarrs81002812
Maprs81002812
PheGenIrs81002812
Biobankrs81002812
1000 genomesrs81002812
hgdprs81002812
ensemblrs81002812
geneviewrs81002812
scholarrs81002812
googlers81002812
pharmgkbrs81002812
gwascentralrs81002812
openSNPrs81002812
23andMers81002812
SNPshotrs81002812
SNPdbers81002812
MSV3drs81002812
GWAS Ctlgrs81002812
Max Magnitude6
ClinVar
Risk rs81002812(A;A) rs81002812(C;C)
Alt rs81002812(A;A) rs81002812(C;C)
Reference Rs81002812(G;G)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome not specified not provided
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome not specified not provided
Reversed 0
HGVS NC_000013.10:g.32953453G>A; NC_000013.10:g.32953453G>C
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031766.9, RCV000131043.3, RCV000220836.2, RCV000238986.1, RCV000485251.1,