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rs80357419

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357419(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092791
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357419
ebirs80357419
HLIrs80357419
Exacrs80357419
Varsomers80357419
Maprs80357419
PheGenIrs80357419
hapmaprs80357419
1000 genomesrs80357419
hgdprs80357419
ensemblrs80357419
gopubmedrs80357419
geneviewrs80357419
scholarrs80357419
googlers80357419
pharmgkbrs80357419
gwascentralrs80357419
openSNPrs80357419
23andMers80357419
23andMe allrs80357419
SNP Nexus

SNPshotrs80357419
SNPdbers80357419
MSV3drs80357419
GWAS Ctlgrs80357419
Max Magnitude6
rs80357419, also known as E914X, c.2740G>T and p.Glu914Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357419(T;T)
Alt rs80357419(T;T)
Reference rs80357419(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.41244808C>A
CLNSRC ClinVar
CLNACC RCV000047954.2, RCV000111929.1,