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rs587776878

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs587776878(C;C)
Make rs587776878(C;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position52402423
GeneBAP1
is asnp
is mentioned by
dbSNPrs587776878
ebirs587776878
HLIrs587776878
Exacrs587776878
Varsomers587776878
Maprs587776878
PheGenIrs587776878
hapmaprs587776878
1000 genomesrs587776878
hgdprs587776878
ensemblrs587776878
gopubmedrs587776878
geneviewrs587776878
scholarrs587776878
googlers587776878
pharmgkbrs587776878
gwascentralrs587776878
openSNPrs587776878
23andMers587776878
23andMe allrs587776878
SNP Nexus

SNPshotrs587776878
SNPdbers587776878
MSV3drs587776878
GWAS Ctlgrs587776878
Max Magnitude0
ClinVar
Risk rs587776878(C,T;C,T)
Alt rs587776878(C,T;C,T)
Reference rs587776878(A;A)
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.52436439T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000023235.2,