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rs1060503735

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1060503735(-;-)
Make rs1060503735(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position52409716
GeneBAP1, PHF7
is asnp
is mentioned by
dbSNPrs1060503735
dbSNP (classic)rs1060503735
ClinGenrs1060503735
ebirs1060503735
HLIrs1060503735
Exacrs1060503735
Gnomadrs1060503735
Varsomers1060503735
LitVarrs1060503735
Maprs1060503735
PheGenIrs1060503735
Biobankrs1060503735
1000 genomesrs1060503735
hgdprs1060503735
ensemblrs1060503735
geneviewrs1060503735
scholarrs1060503735
googlers1060503735
pharmgkbrs1060503735
gwascentralrs1060503735
openSNPrs1060503735
23andMers1060503735
23andMe allrs1060503735
SNPshotrs1060503735
SNPdbers1060503735
MSV3drs1060503735
GWAS Ctlgrs1060503735
Max Magnitude0
ClinVar
Risk rs1060503735(-;-)
Alt rs1060503735(-;-)
Reference Rs1060503735(T;T)
Significance Pathogenic
Disease Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BAP1 PHF7
CLNDBN Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000003.11:g.52443732delA
CLNSRC
CLNACC RCV000472085.1,