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rs1060503732

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060503732(C;C)
Make rs1060503732(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position52408607
GeneBAP1, PHF7
is asnp
is mentioned by
dbSNPrs1060503732
dbSNP (old)rs1060503732
ClinGenrs1060503732
ebirs1060503732
HLIrs1060503732
Exacrs1060503732
Gnomadrs1060503732
Varsomers1060503732
Maprs1060503732
PheGenIrs1060503732
Biobankrs1060503732
1000 genomesrs1060503732
hgdprs1060503732
ensemblrs1060503732
gopubmedrs1060503732
geneviewrs1060503732
scholarrs1060503732
googlers1060503732
pharmgkbrs1060503732
gwascentralrs1060503732
openSNPrs1060503732
23andMers1060503732
23andMe allrs1060503732
SNPshotrs1060503732
SNPdbers1060503732
MSV3drs1060503732
GWAS Ctlgrs1060503732
Max Magnitude0
ClinVar
Risk rs1060503732(C;C)
Alt rs1060503732(C;C)
Reference Rs1060503732(G;G)
Significance Probable-Pathogenic
Disease Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene PHF7 BAP1
CLNDBN Tumor susceptibility linked to germline BAP1 mutations
Reversed 1
HGVS NC_000003.11:g.52442623C>G
CLNSRC
CLNACC RCV000463679.1,