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rs80357139

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357139(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094429
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357139
ebirs80357139
HLIrs80357139
Exacrs80357139
Varsomers80357139
Maprs80357139
PheGenIrs80357139
hapmaprs80357139
1000 genomesrs80357139
hgdprs80357139
ensemblrs80357139
gopubmedrs80357139
geneviewrs80357139
scholarrs80357139
googlers80357139
pharmgkbrs80357139
gwascentralrs80357139
openSNPrs80357139
23andMers80357139
23andMe allrs80357139
SNP Nexus

SNPshotrs80357139
SNPdbers80357139
MSV3drs80357139
GWAS Ctlgrs80357139
Max Magnitude6
rs80357139, also known as E368X, c.1102G>T and p.Glu368Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357139(T;T)
Alt rs80357139(T;T)
Reference rs80357139(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.41246446C>A
CLNSRC ClinVar
CLNACC RCV000047340.2, RCV000111548.2,