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rs80357296

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357296(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091987
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357296
ebirs80357296
HLIrs80357296
Exacrs80357296
Varsomers80357296
Maprs80357296
PheGenIrs80357296
hapmaprs80357296
1000 genomesrs80357296
hgdprs80357296
ensemblrs80357296
gopubmedrs80357296
geneviewrs80357296
scholarrs80357296
googlers80357296
pharmgkbrs80357296
gwascentralrs80357296
openSNPrs80357296
23andMers80357296
23andMe allrs80357296
SNP Nexus

SNPshotrs80357296
SNPdbers80357296
MSV3drs80357296
GWAS Ctlgrs80357296
Max Magnitude6
rs80357296, also known as Q1182X, c.3544C>T and p.Gln1182Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357296(T;T)
Alt rs80357296(T;T)
Reference rs80357296(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41244004G>A
CLNSRC ClinVar
CLNACC RCV000048228.2, RCV000112114.2,