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rs80357178

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357178(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091474
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357178
ebirs80357178
HLIrs80357178
Exacrs80357178
Varsomers80357178
Maprs80357178
PheGenIrs80357178
hapmaprs80357178
1000 genomesrs80357178
hgdprs80357178
ensemblrs80357178
gopubmedrs80357178
geneviewrs80357178
scholarrs80357178
googlers80357178
pharmgkbrs80357178
gwascentralrs80357178
openSNPrs80357178
23andMers80357178
23andMe allrs80357178
SNP Nexus

SNPshotrs80357178
SNPdbers80357178
MSV3drs80357178
GWAS Ctlgrs80357178
Max Magnitude6
rs80357178, also known as E1353X, c.4057G>T and p.Glu1353Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357178(T;T)
Alt rs80357178(T;T)
Reference rs80357178(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.41243491C>A
CLNSRC ClinVar
CLNACC RCV000048427.2, RCV000112236.2,