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rs80359101

From SNPedia

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


Make rs80359101(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32370957
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359101
ebirs80359101
HLIrs80359101
Exacrs80359101
Varsomers80359101
Maprs80359101
PheGenIrs80359101
hapmaprs80359101
1000 genomesrs80359101
hgdprs80359101
ensemblrs80359101
gopubmedrs80359101
geneviewrs80359101
scholarrs80359101
googlers80359101
pharmgkbrs80359101
gwascentralrs80359101
openSNPrs80359101
23andMers80359101
23andMe allrs80359101
SNP Nexus

SNPshotrs80359101
SNPdbers80359101
MSV3drs80359101
GWAS Ctlgrs80359101
Max Magnitude6
rs80359101, also known as W2830X, c.8489G>A and p.Trp2830Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359101(A;A)
Alt rs80359101(A;A)
Reference rs80359101(G;G)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome
Reversed 0
HGVS NC_000013.10:g.32945094G>A
CLNSRC ClinVar
CLNACC RCV000045538.2, RCV000077442.4, RCV000222775.1,