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rs137852479

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137852479(A;G)
Make rs137852479(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position134498677
GeneHPRT1
is asnp
is mentioned by
dbSNPrs137852479
ebirs137852479
HLIrs137852479
Exacrs137852479
Varsomers137852479
Maprs137852479
PheGenIrs137852479
hapmaprs137852479
1000 genomesrs137852479
hgdprs137852479
ensemblrs137852479
gopubmedrs137852479
geneviewrs137852479
scholarrs137852479
googlers137852479
pharmgkbrs137852479
gwascentralrs137852479
openSNPrs137852479
23andMers137852479
23andMe allrs137852479
SNP Nexus

SNPshotrs137852479
SNPdbers137852479
MSV3drs137852479
GWAS Ctlgrs137852479
Max Magnitude0
OMIM308000
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137852479(G;G)
Alt rs137852479(G;G)
Reference rs137852479(A;A)
Significance Other
Disease Partial hypoxanthine-guanine phosphoribosyltransferase deficiency HPRT ASHVILLE
Variation info
Gene HPRT1
CLNDBN Partial hypoxanthine-guanine phosphoribosyltransferase deficiency HPRT ASHVILLE
Reversed 0
HGVS NC_000023.10:g.133632707A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000010716.2, RCV000010717.1,