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rs137852492

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852492(G;T)
Make rs137852492(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position134498433
GeneHPRT1
is asnp
is mentioned by
dbSNPrs137852492
ebirs137852492
HLIrs137852492
Exacrs137852492
Varsomers137852492
Maprs137852492
PheGenIrs137852492
hapmaprs137852492
1000 genomesrs137852492
hgdprs137852492
ensemblrs137852492
gopubmedrs137852492
geneviewrs137852492
scholarrs137852492
googlers137852492
pharmgkbrs137852492
gwascentralrs137852492
openSNPrs137852492
23andMers137852492
23andMe allrs137852492
SNP Nexus

SNPshotrs137852492
SNPdbers137852492
MSV3drs137852492
GWAS Ctlgrs137852492
Max Magnitude0
OMIM308000
Desc
Variant0021
Relatedalso
ClinVar
Risk rs137852492(T;T)
Alt rs137852492(T;T)
Reference rs137852492(G;G)
Significance Pathogenic
Disease Lesch-Nyhan syndrome
Variation info
Gene HPRT1
CLNDBN Lesch-Nyhan syndrome
Reversed 0
HGVS NC_000023.10:g.133632463G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010749.4,