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rs80359163

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359163(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32379896
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359163
ebirs80359163
HLIrs80359163
Exacrs80359163
Varsomers80359163
Maprs80359163
PheGenIrs80359163
hapmaprs80359163
1000 genomesrs80359163
hgdprs80359163
ensemblrs80359163
gopubmedrs80359163
geneviewrs80359163
scholarrs80359163
googlers80359163
pharmgkbrs80359163
gwascentralrs80359163
openSNPrs80359163
23andMers80359163
23andMe allrs80359163
SNP Nexus

SNPshotrs80359163
SNPdbers80359163
MSV3drs80359163
GWAS Ctlgrs80359163
Max Magnitude6
rs80359163, also known as Q3034X, c.9100C>T and p.Gln3034Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359163(T;T)
Alt rs80359163(T;T)
Reference rs80359163(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer not provided
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 not provided
Reversed 0
HGVS NC_000013.10:g.32954033C>T
CLNSRC ClinVar
CLNACC RCV000045714.2, RCV000114047.1, RCV000220911.1,