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rs80357186

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357186(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43093094
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357186
ebirs80357186
HLIrs80357186
Exacrs80357186
Varsomers80357186
Maprs80357186
PheGenIrs80357186
hapmaprs80357186
1000 genomesrs80357186
hgdprs80357186
ensemblrs80357186
gopubmedrs80357186
geneviewrs80357186
scholarrs80357186
googlers80357186
pharmgkbrs80357186
gwascentralrs80357186
openSNPrs80357186
23andMers80357186
23andMe allrs80357186
SNP Nexus

SNPshotrs80357186
SNPdbers80357186
MSV3drs80357186
GWAS Ctlgrs80357186
Max Magnitude6
rs80357186, also known as G813X, c.2437G>T and p.Gly813Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357186(T;T)
Alt rs80357186(T;T)
Reference rs80357186(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.41245111C>A
CLNSRC ClinVar
CLNACC RCV000047840.2, RCV000111862.2,