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rs80357083

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357083(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43094279
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357083
ebirs80357083
HLIrs80357083
Exacrs80357083
Varsomers80357083
Maprs80357083
PheGenIrs80357083
hapmaprs80357083
1000 genomesrs80357083
hgdprs80357083
ensemblrs80357083
gopubmedrs80357083
geneviewrs80357083
scholarrs80357083
googlers80357083
pharmgkbrs80357083
gwascentralrs80357083
openSNPrs80357083
23andMers80357083
23andMe allrs80357083
SNP Nexus

SNPshotrs80357083
SNPdbers80357083
MSV3drs80357083
GWAS Ctlgrs80357083
Max Magnitude6
rs80357083, also known as E418X, c.1252G>T and p.Glu418Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357083(T;T)
Alt rs80357083(T;T)
Reference rs80357083(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.41246296C>A
CLNSRC ClinVar
CLNACC RCV000047394.2, RCV000111573.1,