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rs397507254

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs397507254(-;-)
Make rs397507254(-;C)
Make rs397507254(C;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position43045691
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397507254
ebirs397507254
HLIrs397507254
Exacrs397507254
Varsomers397507254
Maprs397507254
PheGenIrs397507254
hapmaprs397507254
1000 genomesrs397507254
hgdprs397507254
ensemblrs397507254
gopubmedrs397507254
geneviewrs397507254
scholarrs397507254
googlers397507254
pharmgkbrs397507254
gwascentralrs397507254
openSNPrs397507254
23andMers397507254
23andMe allrs397507254
SNP Nexus

SNPshotrs397507254
SNPdbers397507254
MSV3drs397507254
GWAS Ctlgrs397507254
Max Magnitude0
ClinVar
Risk rs397507254(C;C)
Alt rs397507254(C;C)
Reference rs397507254(;)
Significance Probable-Pathogenic
Disease Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA1
CLNDBN Breast-ovarian cancer, familial 1 Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000017.10:g.41197709dupG
CLNSRC ClinVar
CLNACC RCV000031264.3, RCV000223553.1,