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

rs80357426

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357426(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093337
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357426
ebirs80357426
HLIrs80357426
Exacrs80357426
Varsomers80357426
Maprs80357426
PheGenIrs80357426
hapmaprs80357426
1000 genomesrs80357426
hgdprs80357426
ensemblrs80357426
gopubmedrs80357426
geneviewrs80357426
scholarrs80357426
googlers80357426
pharmgkbrs80357426
gwascentralrs80357426
openSNPrs80357426
23andMers80357426
23andMe allrs80357426
SNP Nexus

SNPshotrs80357426
SNPdbers80357426
MSV3drs80357426
GWAS Ctlgrs80357426
Max Magnitude6
rs80357426, also known as E732X, c.2194G>T and p.Glu732Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357426(T;T)
Alt rs80357426(T;T)
Reference rs80357426(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.41245354C>A
CLNSRC ClinVar
CLNACC RCV000047751.2, RCV000111786.1,