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rs80358518

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358518(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position32336892
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358518
ebirs80358518
HLIrs80358518
Exacrs80358518
Varsomers80358518
Maprs80358518
PheGenIrs80358518
hapmaprs80358518
1000 genomesrs80358518
hgdprs80358518
ensemblrs80358518
gopubmedrs80358518
geneviewrs80358518
scholarrs80358518
googlers80358518
pharmgkbrs80358518
gwascentralrs80358518
openSNPrs80358518
23andMers80358518
23andMe allrs80358518
SNP Nexus

SNPshotrs80358518
SNPdbers80358518
MSV3drs80358518
GWAS Ctlgrs80358518
Max Magnitude6
rs80358518, also known as S846X, c.2537C>G and p.Ser846Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358518(G;G)
Alt rs80358518(G;G)
Reference rs80358518(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32911029C>G
CLNSRC ClinVar
CLNACC RCV000044010.2, RCV000113056.2,