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rs80357369

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357369(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092101
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357369
ebirs80357369
HLIrs80357369
Exacrs80357369
Varsomers80357369
Maprs80357369
PheGenIrs80357369
hapmaprs80357369
1000 genomesrs80357369
hgdprs80357369
ensemblrs80357369
gopubmedrs80357369
geneviewrs80357369
scholarrs80357369
googlers80357369
pharmgkbrs80357369
gwascentralrs80357369
openSNPrs80357369
23andMers80357369
23andMe allrs80357369
SNP Nexus

SNPshotrs80357369
SNPdbers80357369
MSV3drs80357369
GWAS Ctlgrs80357369
Max Magnitude6
rs80357369, also known as Q1144X, c.3430C>T and p.Gln1144Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357369(T;T)
Alt rs80357369(T;T)
Reference rs80357369(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.41244118G>A
CLNSRC ClinVar
CLNACC RCV000048195.2, RCV000112096.1,