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rs81002862

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 6 BRCA2 variant considered pathogenic for breast cancer
(A;G) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs81002862(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position32380005
GeneBRCA2
is asnp
is mentioned by
dbSNPrs81002862
dbSNP (classic)rs81002862
ClinGenrs81002862
ebirs81002862
HLIrs81002862
Exacrs81002862
Gnomadrs81002862
Varsomers81002862
LitVarrs81002862
Maprs81002862
PheGenIrs81002862
Biobankrs81002862
1000 genomesrs81002862
hgdprs81002862
ensemblrs81002862
geneviewrs81002862
scholarrs81002862
googlers81002862
pharmgkbrs81002862
gwascentralrs81002862
openSNPrs81002862
23andMers81002862
SNPshotrs81002862
SNPdbers81002862
MSV3drs81002862
GWAS Ctlgrs81002862
Max Magnitude6

aka c.9118-2A>G as well as c.9118-2A>C and c.9118-2A>T

23andMe name for the c.9118-2A>G variant: i5010629

ClinVar
Risk rs81002862(C;C) rs81002862(G;G) rs81002862(T;T)
Alt rs81002862(C;C) rs81002862(G;G) rs81002862(T;T)
Reference Rs81002862(A;A)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast not provided
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast not provided
Reversed 0
HGVS NC_000013.10:g.32954142A>C; NC_000013.10:g.32954142A>G; NC_000013.10:g.32954142A>T
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000258415.1, RCV000045727.4, RCV000077460.3, RCV000212285.2, RCV000258235.1,