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rs864622592

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs864622592(C;T)
Make rs864622592(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position52406258
GeneBAP1
is asnp
is mentioned by
dbSNPrs864622592
ebirs864622592
HLIrs864622592
Exacrs864622592
Varsomers864622592
Maprs864622592
PheGenIrs864622592
hapmaprs864622592
1000 genomesrs864622592
hgdprs864622592
ensemblrs864622592
gopubmedrs864622592
geneviewrs864622592
scholarrs864622592
googlers864622592
pharmgkbrs864622592
gwascentralrs864622592
openSNPrs864622592
23andMers864622592
23andMe allrs864622592
SNP Nexus

SNPshotrs864622592
SNPdbers864622592
MSV3drs864622592
GWAS Ctlgrs864622592
Max Magnitude0
ClinVar
Risk rs864622592(T;T)
Alt rs864622592(T;T)
Reference rs864622592(C;C)
Significance Pathogenic
Disease Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BAP1
CLNDBN Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000003.11:g.52440274G>A
CLNSRC
CLNACC RCV000205098.1,