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rs80357089

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357089(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092200
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357089
ebirs80357089
HLIrs80357089
Exacrs80357089
Varsomers80357089
Maprs80357089
PheGenIrs80357089
hapmaprs80357089
1000 genomesrs80357089
hgdprs80357089
ensemblrs80357089
gopubmedrs80357089
geneviewrs80357089
scholarrs80357089
googlers80357089
pharmgkbrs80357089
gwascentralrs80357089
openSNPrs80357089
23andMers80357089
23andMe allrs80357089
SNP Nexus

SNPshotrs80357089
SNPdbers80357089
MSV3drs80357089
GWAS Ctlgrs80357089
Max Magnitude6
rs80357089, also known as Q1111X, c.3331C>T and p.Gln1111Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357089(T;T)
Alt rs80357089(T;T)
Reference rs80357089(C;C)
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.41244217G>A
CLNSRC ClinVar
CLNACC RCV000048150.4, RCV000112070.1,