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rs80356896

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80356896(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43063946
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80356896
ebirs80356896
HLIrs80356896
Exacrs80356896
Varsomers80356896
Maprs80356896
PheGenIrs80356896
hapmaprs80356896
1000 genomesrs80356896
hgdprs80356896
ensemblrs80356896
gopubmedrs80356896
geneviewrs80356896
scholarrs80356896
googlers80356896
pharmgkbrs80356896
gwascentralrs80356896
openSNPrs80356896
23andMers80356896
23andMe allrs80356896
SNP Nexus

SNPshotrs80356896
SNPdbers80356896
MSV3drs80356896
GWAS Ctlgrs80356896
Max Magnitude6
rs80356896, also known as E1694X, c.5080G>T and p.Glu1694Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80356896(T;T)
Alt rs80356896(T;T)
Reference rs80356896(G;G)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41215963C>A
CLNSRC ClinVar
CLNACC RCV000048780.3, RCV000077593.3,