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rs80359170

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359170(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32380037
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359170
ebirs80359170
HLIrs80359170
Exacrs80359170
Varsomers80359170
Maprs80359170
PheGenIrs80359170
hapmaprs80359170
1000 genomesrs80359170
hgdprs80359170
ensemblrs80359170
gopubmedrs80359170
geneviewrs80359170
scholarrs80359170
googlers80359170
pharmgkbrs80359170
gwascentralrs80359170
openSNPrs80359170
23andMers80359170
23andMe allrs80359170
SNP Nexus

SNPshotrs80359170
SNPdbers80359170
MSV3drs80359170
GWAS Ctlgrs80359170
Max Magnitude6
rs80359170, also known as Q3050X, c.9148C>T and p.Gln3050Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359170(T;T)
Alt rs80359170(T;T)
Reference rs80359170(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.32954174C>T
CLNSRC ClinVar
CLNACC RCV000045731.2, RCV000083155.3, RCV000221883.1,