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rs80356879

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80356879(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43067635
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80356879
ebirs80356879
HLIrs80356879
Exacrs80356879
Varsomers80356879
Maprs80356879
PheGenIrs80356879
hapmaprs80356879
1000 genomesrs80356879
hgdprs80356879
ensemblrs80356879
gopubmedrs80356879
geneviewrs80356879
scholarrs80356879
googlers80356879
pharmgkbrs80356879
gwascentralrs80356879
openSNPrs80356879
23andMers80356879
23andMe allrs80356879
SNP Nexus

SNPshotrs80356879
SNPdbers80356879
MSV3drs80356879
GWAS Ctlgrs80356879
Max Magnitude6
rs80356879, also known as E1683X, c.5047G>T and p.Glu1683Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80356879(T;T)
Alt rs80356879(T;T)
Reference rs80356879(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.41219652C>A
CLNSRC ClinVar
CLNACC RCV000048748.2, RCV000112473.1,