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rs80357497

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357497(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092608
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357497
ebirs80357497
HLIrs80357497
Exacrs80357497
Varsomers80357497
Maprs80357497
PheGenIrs80357497
hapmaprs80357497
1000 genomesrs80357497
hgdprs80357497
ensemblrs80357497
gopubmedrs80357497
geneviewrs80357497
scholarrs80357497
googlers80357497
pharmgkbrs80357497
gwascentralrs80357497
openSNPrs80357497
23andMers80357497
23andMe allrs80357497
SNP Nexus

SNPshotrs80357497
SNPdbers80357497
MSV3drs80357497
GWAS Ctlgrs80357497
Max Magnitude6
rs80357497, also known as Q975X, c.2923C>T and p.Gln975Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357497(T;T)
Alt rs80357497(T;T)
Reference rs80357497(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.41244625G>A
CLNSRC ClinVar
CLNACC RCV000048013.2, RCV000111967.1,