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rs1060503744

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1060503744(A;T)
Make rs1060503744(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position52408548
GeneBAP1, PHF7
is asnp
is mentioned by
dbSNPrs1060503744
dbSNP (classic)rs1060503744
ClinGenrs1060503744
ebirs1060503744
HLIrs1060503744
Exacrs1060503744
Gnomadrs1060503744
Varsomers1060503744
LitVarrs1060503744
Maprs1060503744
PheGenIrs1060503744
Biobankrs1060503744
1000 genomesrs1060503744
hgdprs1060503744
ensemblrs1060503744
geneviewrs1060503744
scholarrs1060503744
googlers1060503744
pharmgkbrs1060503744
gwascentralrs1060503744
openSNPrs1060503744
23andMers1060503744
23andMe allrs1060503744
SNPshotrs1060503744
SNPdbers1060503744
MSV3drs1060503744
GWAS Ctlgrs1060503744
Max Magnitude0
ClinVar
Risk rs1060503744(T;T)
Alt rs1060503744(T;T)
Reference Rs1060503744(A;A)
Significance 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.52442564T>A
CLNSRC
CLNACC RCV000477262.1,