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rs80357211

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357211(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094582
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357211
ebirs80357211
HLIrs80357211
Exacrs80357211
Varsomers80357211
Maprs80357211
PheGenIrs80357211
hapmaprs80357211
1000 genomesrs80357211
hgdprs80357211
ensemblrs80357211
gopubmedrs80357211
geneviewrs80357211
scholarrs80357211
googlers80357211
pharmgkbrs80357211
gwascentralrs80357211
openSNPrs80357211
23andMers80357211
23andMe allrs80357211
SNP Nexus

SNPshotrs80357211
SNPdbers80357211
MSV3drs80357211
GWAS Ctlgrs80357211
Max Magnitude6
rs80357211, also known as Q317X, c.949C>T and p.Gln317Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357211(T;T)
Alt rs80357211(T;T)
Reference rs80357211(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.41246599G>A
CLNSRC ClinVar
CLNACC RCV000049199.2, RCV000083227.3,