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rs137852506

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852506(C;T)
Make rs137852506(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position134475239
GeneHPRT1
is asnp
is mentioned by
dbSNPrs137852506
ebirs137852506
HLIrs137852506
Exacrs137852506
Varsomers137852506
Maprs137852506
PheGenIrs137852506
hapmaprs137852506
1000 genomesrs137852506
hgdprs137852506
ensemblrs137852506
gopubmedrs137852506
geneviewrs137852506
scholarrs137852506
googlers137852506
pharmgkbrs137852506
gwascentralrs137852506
openSNPrs137852506
23andMers137852506
23andMe allrs137852506
SNP Nexus

SNPshotrs137852506
SNPdbers137852506
MSV3drs137852506
GWAS Ctlgrs137852506
Max Magnitude0
OMIM308000
Desc
Variant0059
Relatedalso
ClinVar
Risk rs137852506(T;T)
Alt rs137852506(T;T)
Reference rs137852506(C;C)
Significance Pathogenic
Disease Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
Variation info
Gene HPRT1
CLNDBN Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
Reversed 0
HGVS NC_000023.10:g.133609269C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010796.4,