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rs137852490

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852490(C;G)
Make rs137852490(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position134500030
GeneHPRT1
is asnp
is mentioned by
dbSNPrs137852490
ebirs137852490
HLIrs137852490
Exacrs137852490
Varsomers137852490
Maprs137852490
PheGenIrs137852490
hapmaprs137852490
1000 genomesrs137852490
hgdprs137852490
ensemblrs137852490
gopubmedrs137852490
geneviewrs137852490
scholarrs137852490
googlers137852490
pharmgkbrs137852490
gwascentralrs137852490
openSNPrs137852490
23andMers137852490
23andMe allrs137852490
SNP Nexus

SNPshotrs137852490
SNPdbers137852490
MSV3drs137852490
GWAS Ctlgrs137852490
Max Magnitude0
OMIM308000
Desc
Variant0019
Relatedalso
ClinVar
Risk rs137852490(G;G)
Alt rs137852490(G;G)
Reference rs137852490(C;C)
Significance Pathogenic
Disease Lesch-Nyhan syndrome
Variation info
Gene HPRT1
CLNDBN Lesch-Nyhan syndrome
Reversed 0
HGVS NC_000023.10:g.133634060C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000010747.5,