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rs80357004

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357004(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092482
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357004
ebirs80357004
HLIrs80357004
Exacrs80357004
Varsomers80357004
Maprs80357004
PheGenIrs80357004
hapmaprs80357004
1000 genomesrs80357004
hgdprs80357004
ensemblrs80357004
gopubmedrs80357004
geneviewrs80357004
scholarrs80357004
googlers80357004
pharmgkbrs80357004
gwascentralrs80357004
openSNPrs80357004
23andMers80357004
23andMe allrs80357004
SNP Nexus

SNPshotrs80357004
SNPdbers80357004
MSV3drs80357004
GWAS Ctlgrs80357004
Max Magnitude6
rs80357004, also known as E1017X, c.3049G>T and p.Glu1017Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357004(T;T)
Alt rs80357004(T;T)
Reference rs80357004(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.41244499C>A
CLNSRC ClinVar
CLNACC RCV000048060.2, RCV000111993.1,