Have questions? Visit https://www.reddit.com/r/SNPedia

rs1060503731

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060503731(-;-)
Make rs1060503731(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position52403729
GeneBAP1
is asnp
is mentioned by
dbSNPrs1060503731
dbSNP (old)rs1060503731
ClinGenrs1060503731
ebirs1060503731
HLIrs1060503731
Exacrs1060503731
Gnomadrs1060503731
Varsomers1060503731
Maprs1060503731
PheGenIrs1060503731
Biobankrs1060503731
1000 genomesrs1060503731
hgdprs1060503731
ensemblrs1060503731
gopubmedrs1060503731
geneviewrs1060503731
scholarrs1060503731
googlers1060503731
pharmgkbrs1060503731
gwascentralrs1060503731
openSNPrs1060503731
23andMers1060503731
23andMe allrs1060503731
SNPshotrs1060503731
SNPdbers1060503731
MSV3drs1060503731
GWAS Ctlgrs1060503731
Max Magnitude0
ClinVar
Risk rs1060503731(-;-)
Alt rs1060503731(-;-)
Reference Rs1060503731(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.52437745delC
CLNSRC
CLNACC RCV000475581.1,