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rs80356973

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80356973(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092662
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80356973
ebirs80356973
HLIrs80356973
Exacrs80356973
Varsomers80356973
Maprs80356973
PheGenIrs80356973
hapmaprs80356973
1000 genomesrs80356973
hgdprs80356973
ensemblrs80356973
gopubmedrs80356973
geneviewrs80356973
scholarrs80356973
googlers80356973
pharmgkbrs80356973
gwascentralrs80356973
openSNPrs80356973
23andMers80356973
23andMe allrs80356973
SNP Nexus

SNPshotrs80356973
SNPdbers80356973
MSV3drs80356973
GWAS Ctlgrs80356973
Max Magnitude6
rs80356973, also known as Q957X, c.2869C>T and p.Gln957Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80356973(T;T)
Alt rs80356973(T;T)
Reference rs80356973(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.41244679G>A
CLNSRC ClinVar
CLNACC RCV000047994.2, RCV000111953.1,