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rs137852493

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852493(C;T)
Make rs137852493(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position134498431
GeneHPRT1
is asnp
is mentioned by
dbSNPrs137852493
ebirs137852493
HLIrs137852493
Exacrs137852493
Varsomers137852493
Maprs137852493
PheGenIrs137852493
hapmaprs137852493
1000 genomesrs137852493
hgdprs137852493
ensemblrs137852493
gopubmedrs137852493
geneviewrs137852493
scholarrs137852493
googlers137852493
pharmgkbrs137852493
gwascentralrs137852493
openSNPrs137852493
23andMers137852493
23andMe allrs137852493
SNP Nexus

SNPshotrs137852493
SNPdbers137852493
MSV3drs137852493
GWAS Ctlgrs137852493
Max Magnitude0
OMIM308000
Desc
Variant0033
Relatedalso
ClinVar
Risk rs137852493(T;T)
Alt rs137852493(T;T)
Reference rs137852493(C;C)
Significance Pathogenic
Disease Lesch-Nyhan syndrome
Variation info
Gene HPRT1
CLNDBN Lesch-Nyhan syndrome
Reversed 0
HGVS NC_000023.10:g.133632461C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010758.2,