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rs1060503743

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1060503743(-;-)
Make rs1060503743(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position52403193
GeneBAP1
is asnp
is mentioned by
dbSNPrs1060503743
dbSNP (old)rs1060503743
ClinGenrs1060503743
ebirs1060503743
HLIrs1060503743
Exacrs1060503743
Gnomadrs1060503743
Varsomers1060503743
Maprs1060503743
PheGenIrs1060503743
Biobankrs1060503743
1000 genomesrs1060503743
hgdprs1060503743
ensemblrs1060503743
gopubmedrs1060503743
geneviewrs1060503743
scholarrs1060503743
googlers1060503743
pharmgkbrs1060503743
gwascentralrs1060503743
openSNPrs1060503743
23andMers1060503743
23andMe allrs1060503743
SNPshotrs1060503743
SNPdbers1060503743
MSV3drs1060503743
GWAS Ctlgrs1060503743
Max Magnitude0
ClinVar
Risk rs1060503743(-;-)
Alt rs1060503743(-;-)
Reference Rs1060503743(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.52437209delT
CLNSRC
CLNACC RCV000471043.1,