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

rs80356947

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80356947(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43099808
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80356947
ebirs80356947
HLIrs80356947
Exacrs80356947
Varsomers80356947
Maprs80356947
PheGenIrs80356947
hapmaprs80356947
1000 genomesrs80356947
hgdprs80356947
ensemblrs80356947
gopubmedrs80356947
geneviewrs80356947
scholarrs80356947
googlers80356947
pharmgkbrs80356947
gwascentralrs80356947
openSNPrs80356947
23andMers80356947
23andMe allrs80356947
SNP Nexus

SNPshotrs80356947
SNPdbers80356947
MSV3drs80356947
GWAS Ctlgrs80356947
Max Magnitude6
rs80356947, also known as Q172X, c.514C>T and p.Gln172Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80356947(T;T)
Alt rs80356947(T;T)
Reference rs80356947(C;C)
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.41251825G>A
CLNSRC ClinVar
CLNACC RCV000048816.2, RCV000077602.3,