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rs80358943

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358943(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position32354968
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358943
ebirs80358943
HLIrs80358943
Exacrs80358943
Varsomers80358943
Maprs80358943
PheGenIrs80358943
hapmaprs80358943
1000 genomesrs80358943
hgdprs80358943
ensemblrs80358943
gopubmedrs80358943
geneviewrs80358943
scholarrs80358943
googlers80358943
pharmgkbrs80358943
gwascentralrs80358943
openSNPrs80358943
23andMers80358943
23andMe allrs80358943
SNP Nexus

SNPshotrs80358943
SNPdbers80358943
MSV3drs80358943
GWAS Ctlgrs80358943
Max Magnitude6
rs80358943, also known as S2372X, c.7115C>G and p.Ser2372Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358943(G;G)
Alt rs80358943(G;G)
Reference rs80358943(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.32929105C>G
CLNSRC ClinVar
CLNACC RCV000045146.2, RCV000113711.1,