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

rs137852504

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852504(C;G)
Make rs137852504(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position134498657
GeneHPRT1
is asnp
is mentioned by
dbSNPrs137852504
ebirs137852504
HLIrs137852504
Exacrs137852504
Varsomers137852504
Maprs137852504
PheGenIrs137852504
hapmaprs137852504
1000 genomesrs137852504
hgdprs137852504
ensemblrs137852504
gopubmedrs137852504
geneviewrs137852504
scholarrs137852504
googlers137852504
pharmgkbrs137852504
gwascentralrs137852504
openSNPrs137852504
23andMers137852504
23andMe allrs137852504
SNP Nexus

SNPshotrs137852504
SNPdbers137852504
MSV3drs137852504
GWAS Ctlgrs137852504
Max Magnitude0
OMIM308000
Desc
Variant0056
Relatedalso
ClinVar
Risk rs137852504(G;G)
Alt rs137852504(G;G)
Reference rs137852504(C;C)
Significance Other
Disease Partial hypoxanthine-guanine phosphoribosyltransferase deficiency HPRT MOOSE JAW
Variation info
Gene HPRT1
CLNDBN Partial hypoxanthine-guanine phosphoribosyltransferase deficiency HPRT MOOSE JAW
Reversed 0
HGVS NC_000023.10:g.133632687C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000010791.3, RCV000010792.1,