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rs80357278

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357278(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092191
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357278
ebirs80357278
HLIrs80357278
Exacrs80357278
Varsomers80357278
Maprs80357278
PheGenIrs80357278
hapmaprs80357278
1000 genomesrs80357278
hgdprs80357278
ensemblrs80357278
gopubmedrs80357278
geneviewrs80357278
scholarrs80357278
googlers80357278
pharmgkbrs80357278
gwascentralrs80357278
openSNPrs80357278
23andMers80357278
23andMe allrs80357278
SNP Nexus

SNPshotrs80357278
SNPdbers80357278
MSV3drs80357278
GWAS Ctlgrs80357278
Max Magnitude6
rs80357278, also known as E1114X, c.3340G>T and p.Glu1114Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357278(T;T)
Alt rs80357278(T;T)
Reference rs80357278(G;G)
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.41244208C>A
CLNSRC ClinVar
CLNACC RCV000048155.2, RCV000112073.1,