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rs1060503750

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060503750(G;T)
Make rs1060503750(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position52408473
GeneBAP1
is asnp
is mentioned by
dbSNPrs1060503750
dbSNP (old)rs1060503750
ClinGenrs1060503750
ebirs1060503750
HLIrs1060503750
Exacrs1060503750
Gnomadrs1060503750
Varsomers1060503750
LitVarrs1060503750
Maprs1060503750
PheGenIrs1060503750
Biobankrs1060503750
1000 genomesrs1060503750
hgdprs1060503750
ensemblrs1060503750
gopubmedrs1060503750
geneviewrs1060503750
scholarrs1060503750
googlers1060503750
pharmgkbrs1060503750
gwascentralrs1060503750
openSNPrs1060503750
23andMers1060503750
23andMe allrs1060503750
SNPshotrs1060503750
SNPdbers1060503750
MSV3drs1060503750
GWAS Ctlgrs1060503750
Max Magnitude0
ClinVar
Risk rs1060503750(T;T)
Alt rs1060503750(T;T)
Reference Rs1060503750(G;G)
Significance Probable-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.52442489C>A
CLNSRC
CLNACC RCV000475336.1,