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rs137852498

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852498(C;T)
Make rs137852498(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position134498407
GeneHPRT1
is asnp
is mentioned by
dbSNPrs137852498
ebirs137852498
HLIrs137852498
Exacrs137852498
Varsomers137852498
Maprs137852498
PheGenIrs137852498
hapmaprs137852498
1000 genomesrs137852498
hgdprs137852498
ensemblrs137852498
gopubmedrs137852498
geneviewrs137852498
scholarrs137852498
googlers137852498
pharmgkbrs137852498
gwascentralrs137852498
openSNPrs137852498
23andMers137852498
23andMe allrs137852498
SNP Nexus

SNPshotrs137852498
SNPdbers137852498
MSV3drs137852498
GWAS Ctlgrs137852498
Max Magnitude0
OMIM308000
Desc
Variant0048
Relatedalso
ClinVar
Risk rs137852498(T;T)
Alt rs137852498(T;T)
Reference rs137852498(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.133632437C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010776.4,