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

rs80357401

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357401(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43070933
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357401
ebirs80357401
HLIrs80357401
Exacrs80357401
Varsomers80357401
Maprs80357401
PheGenIrs80357401
hapmaprs80357401
1000 genomesrs80357401
hgdprs80357401
ensemblrs80357401
gopubmedrs80357401
geneviewrs80357401
scholarrs80357401
googlers80357401
pharmgkbrs80357401
gwascentralrs80357401
openSNPrs80357401
23andMers80357401
23andMe allrs80357401
SNP Nexus

SNPshotrs80357401
SNPdbers80357401
MSV3drs80357401
GWAS Ctlgrs80357401
Max Magnitude6
rs80357401, also known as E1661X, c.4981G>T and p.Glu1661Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357401(T;T)
Alt rs80357401(T;T)
Reference rs80357401(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.41222950C>A
CLNSRC ClinVar
CLNACC RCV000048717.2, RCV000112440.1,