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rs1060503726

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060503726(G;T)
Make rs1060503726(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position52407210
GeneBAP1
is asnp
is mentioned by
dbSNPrs1060503726
dbSNP (old)rs1060503726
ClinGenrs1060503726
ebirs1060503726
HLIrs1060503726
Exacrs1060503726
Gnomadrs1060503726
Varsomers1060503726
LitVarrs1060503726
Maprs1060503726
PheGenIrs1060503726
Biobankrs1060503726
1000 genomesrs1060503726
hgdprs1060503726
ensemblrs1060503726
gopubmedrs1060503726
geneviewrs1060503726
scholarrs1060503726
googlers1060503726
pharmgkbrs1060503726
gwascentralrs1060503726
openSNPrs1060503726
23andMers1060503726
23andMe allrs1060503726
SNPshotrs1060503726
SNPdbers1060503726
MSV3drs1060503726
GWAS Ctlgrs1060503726
Max Magnitude0
ClinVar
Risk rs1060503726(T;T)
Alt rs1060503726(T;T)
Reference Rs1060503726(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.52441226C>A
CLNSRC
CLNACC RCV000457289.1,