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

rs80357485

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA1 variant considered pathogenic for breast cancer
Make rs80357485(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43092245
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357485
ebirs80357485
HLIrs80357485
Exacrs80357485
Varsomers80357485
Maprs80357485
PheGenIrs80357485
hapmaprs80357485
1000 genomesrs80357485
hgdprs80357485
ensemblrs80357485
gopubmedrs80357485
geneviewrs80357485
scholarrs80357485
googlers80357485
pharmgkbrs80357485
gwascentralrs80357485
openSNPrs80357485
23andMers80357485
23andMe allrs80357485
SNP Nexus

SNPshotrs80357485
SNPdbers80357485
MSV3drs80357485
GWAS Ctlgrs80357485
Max Magnitude6
rs80357485, also known as Q1096X, c.3286C>T and p.Gln1096Ter, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357485(A,T;A,T)
Alt rs80357485(A,T;A,T)
Reference rs80357485(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.41244262G>A
CLNSRC ClinVar
CLNACC RCV000048122.2, RCV000112045.1,