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

rs80357390

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80357390(C;T)
Make rs80357390(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position43070950
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357390
ebirs80357390
HLIrs80357390
Exacrs80357390
Varsomers80357390
Maprs80357390
PheGenIrs80357390
hapmaprs80357390
1000 genomesrs80357390
hgdprs80357390
ensemblrs80357390
gopubmedrs80357390
geneviewrs80357390
scholarrs80357390
googlers80357390
pharmgkbrs80357390
gwascentralrs80357390
openSNPrs80357390
23andMers80357390
23andMe allrs80357390
SNP Nexus

SNPshotrs80357390
SNPdbers80357390
MSV3drs80357390
GWAS Ctlgrs80357390
Max Magnitude0
ClinVar
Risk rs80357390(T;T)
Alt rs80357390(T;T)
Reference rs80357390(C;C)
Significance Probable-Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1 Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000017.10:g.41222967G>A
CLNSRC ClinVar
CLNACC RCV000048712.2, RCV000112436.1, RCV000223580.1,