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rs137852488

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852488(C;C)
Make rs137852488(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position134475257
GeneHPRT1
is asnp
is mentioned by
dbSNPrs137852488
ebirs137852488
HLIrs137852488
Exacrs137852488
Varsomers137852488
Maprs137852488
PheGenIrs137852488
hapmaprs137852488
1000 genomesrs137852488
hgdprs137852488
ensemblrs137852488
gopubmedrs137852488
geneviewrs137852488
scholarrs137852488
googlers137852488
pharmgkbrs137852488
gwascentralrs137852488
openSNPrs137852488
23andMers137852488
23andMe allrs137852488
SNP Nexus

SNPshotrs137852488
SNPdbers137852488
MSV3drs137852488
GWAS Ctlgrs137852488
Max Magnitude0
OMIM308000
Desc
Variant0017
Relatedalso
ClinVar
Risk rs137852488(C;C)
Alt rs137852488(C;C)
Reference rs137852488(G;G)
Significance Other
Disease Lesch-Nyhan syndrome HPRT YALE not provided
Variation info
Gene HPRT1
CLNDBN Lesch-Nyhan syndrome HPRT YALE not provided
Reversed 0
HGVS NC_000023.10:g.133609287G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010744.5, RCV000010745.1, RCV000177012.1,