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rs80357291

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357291(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43063353
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357291
ebirs80357291
HLIrs80357291
Exacrs80357291
Varsomers80357291
Maprs80357291
PheGenIrs80357291
hapmaprs80357291
1000 genomesrs80357291
hgdprs80357291
ensemblrs80357291
gopubmedrs80357291
geneviewrs80357291
scholarrs80357291
googlers80357291
pharmgkbrs80357291
gwascentralrs80357291
openSNPrs80357291
23andMers80357291
23andMe allrs80357291
SNP Nexus

SNPshotrs80357291
SNPdbers80357291
MSV3drs80357291
GWAS Ctlgrs80357291
Max Magnitude6
rs80357291, also known as E1725X, c.5173G>T and p.Glu1725Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357291(T;T)
Alt rs80357291(T;T)
Reference rs80357291(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.41215370C>A
CLNSRC ClinVar
CLNACC RCV000048840.2, RCV000112544.1,