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rs80359146

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 6 BRCA2 variant considered pathogenic for breast cancer
(C;C) 0 common in clinvar
(C;G) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359146(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position32379513
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359146
dbSNP (old)rs80359146
ClinGenrs80359146
ebirs80359146
HLIrs80359146
Exacrs80359146
Gnomadrs80359146
Varsomers80359146
Maprs80359146
PheGenIrs80359146
Biobankrs80359146
1000 genomesrs80359146
hgdprs80359146
ensemblrs80359146
gopubmedrs80359146
geneviewrs80359146
scholarrs80359146
googlers80359146
pharmgkbrs80359146
gwascentralrs80359146
openSNPrs80359146
23andMers80359146
23andMe allrs80359146
SNP Nexus

SNPshotrs80359146
SNPdbers80359146
MSV3drs80359146
GWAS Ctlgrs80359146
Max Magnitude6
rs80359146, also known as S2984X, c.8951C>G and p.Ser2984Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359146(A;A) rs80359146(G;G)
Alt rs80359146(A;A) rs80359146(G;G)
Reference Rs80359146(C;C)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Familial cancer of breast
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Familial cancer of breast
Reversed 0
HGVS NC_000013.10:g.32953650C>A; NC_000013.10:g.32953650C>G
CLNSRC ClinVar
CLNACC RCV000257587.2, RCV000472639.1, RCV000045665.2, RCV000114019.3,