Have questions? Visit https://www.reddit.com/r/SNPedia

rs80357277

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357277(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43074388
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357277
ebirs80357277
HLIrs80357277
Exacrs80357277
Varsomers80357277
Maprs80357277
PheGenIrs80357277
hapmaprs80357277
1000 genomesrs80357277
hgdprs80357277
ensemblrs80357277
gopubmedrs80357277
geneviewrs80357277
scholarrs80357277
googlers80357277
pharmgkbrs80357277
gwascentralrs80357277
openSNPrs80357277
23andMers80357277
23andMe allrs80357277
SNP Nexus

SNPshotrs80357277
SNPdbers80357277
MSV3drs80357277
GWAS Ctlgrs80357277
Max Magnitude6
rs80357277, also known as E1540X, c.4618G>T and p.Glu1540Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357277(T;T)
Alt rs80357277(T;T)
Reference rs80357277(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.41226405C>A
CLNSRC ClinVar
CLNACC RCV000048607.2, RCV000077580.3,