Have questions? Visit https://www.reddit.com/r/SNPedia

rs80357134

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357134(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43124063
GeneBRCA1, NBR2
is asnp
is mentioned by
dbSNPrs80357134
ebirs80357134
HLIrs80357134
Exacrs80357134
Varsomers80357134
Maprs80357134
PheGenIrs80357134
hapmaprs80357134
1000 genomesrs80357134
hgdprs80357134
ensemblrs80357134
gopubmedrs80357134
geneviewrs80357134
scholarrs80357134
googlers80357134
pharmgkbrs80357134
gwascentralrs80357134
openSNPrs80357134
23andMers80357134
23andMe allrs80357134
SNP Nexus

SNPshotrs80357134
SNPdbers80357134
MSV3drs80357134
GWAS Ctlgrs80357134
Max Magnitude6
rs80357134, also known as Q12X, c.34C>T and p.Gln12Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357134(T;T)
Alt rs80357134(T;T)
Reference rs80357134(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene NBR2 BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41276080G>A
CLNSRC ClinVar
CLNACC RCV000048217.2, RCV000111614.2,