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rs1060503727

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060503727(-;-)
Make rs1060503727(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position52406844
GeneBAP1
is asnp
is mentioned by
dbSNPrs1060503727
dbSNP (old)rs1060503727
ClinGenrs1060503727
ebirs1060503727
HLIrs1060503727
Exacrs1060503727
Gnomadrs1060503727
Varsomers1060503727
Maprs1060503727
PheGenIrs1060503727
Biobankrs1060503727
1000 genomesrs1060503727
hgdprs1060503727
ensemblrs1060503727
gopubmedrs1060503727
geneviewrs1060503727
scholarrs1060503727
googlers1060503727
pharmgkbrs1060503727
gwascentralrs1060503727
openSNPrs1060503727
23andMers1060503727
23andMe allrs1060503727
SNPshotrs1060503727
SNPdbers1060503727
MSV3drs1060503727
GWAS Ctlgrs1060503727
Max Magnitude0
ClinVar
Risk rs1060503727(-;-)
Alt rs1060503727(-;-)
Reference Rs1060503727(G;G)
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.52440860delC
CLNSRC
CLNACC RCV000466637.1,