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rs80357208

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357208(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091714
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357208
ebirs80357208
HLIrs80357208
Exacrs80357208
Varsomers80357208
Maprs80357208
PheGenIrs80357208
hapmaprs80357208
1000 genomesrs80357208
hgdprs80357208
ensemblrs80357208
gopubmedrs80357208
geneviewrs80357208
scholarrs80357208
googlers80357208
pharmgkbrs80357208
gwascentralrs80357208
openSNPrs80357208
23andMers80357208
23andMe allrs80357208
SNP Nexus

SNPshotrs80357208
SNPdbers80357208
MSV3drs80357208
GWAS Ctlgrs80357208
Max Magnitude6
rs80357208, also known as Q1273X, c.3817C>T and p.Gln1273Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357208(T;T)
Alt rs80357208(T;T)
Reference rs80357208(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000017.10:g.41243731G>A
CLNSRC ClinVar
CLNACC RCV000048342.2, RCV000112191.1, RCV000162867.1,