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rs397509122

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397509122(-;-)
Make rs397509122(-;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091564
GeneBRCA1
is asnp
is mentioned by
dbSNPrs397509122
ebirs397509122
HLIrs397509122
Exacrs397509122
Varsomers397509122
Maprs397509122
PheGenIrs397509122
hapmaprs397509122
1000 genomesrs397509122
hgdprs397509122
ensemblrs397509122
gopubmedrs397509122
geneviewrs397509122
scholarrs397509122
googlers397509122
pharmgkbrs397509122
gwascentralrs397509122
openSNPrs397509122
23andMers397509122
23andMe allrs397509122
SNP Nexus

SNPshotrs397509122
SNPdbers397509122
MSV3drs397509122
GWAS Ctlgrs397509122
Max Magnitude0
ClinVar
Risk rs397509122(;)
Alt rs397509122(;)
Reference rs397509122(C;C)
Significance Pathogenic
Disease Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000017.10:g.41243581delG
CLNSRC ClinVar
CLNACC RCV000048394.2, RCV000220986.1,