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rs137852494

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852494(C;G)
Make rs137852494(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position134475197
GeneHPRT1
is asnp
is mentioned by
dbSNPrs137852494
ebirs137852494
HLIrs137852494
Exacrs137852494
Varsomers137852494
Maprs137852494
PheGenIrs137852494
hapmaprs137852494
1000 genomesrs137852494
hgdprs137852494
ensemblrs137852494
gopubmedrs137852494
geneviewrs137852494
scholarrs137852494
googlers137852494
pharmgkbrs137852494
gwascentralrs137852494
openSNPrs137852494
23andMers137852494
23andMe allrs137852494
SNP Nexus

SNPshotrs137852494
SNPdbers137852494
MSV3drs137852494
GWAS Ctlgrs137852494
Max Magnitude0
OMIM308000
Desc
Variant0034
Relatedalso
OMIM308000
Desc
Variant0035
Relatedalso
ClinVar
Risk rs137852494(G,T;G,T)
Alt rs137852494(G,T;G,T)
Reference rs137852494(C;C)
Significance Other
Disease Partial hypoxanthine-guanine phosphoribosyltransferase deficiency HPRT TORONTO Lesch-Nyhan syndrome HPRT FUJIMI not provided
Variation info
Gene HPRT1
CLNDBN Partial hypoxanthine-guanine phosphoribosyltransferase deficiency HPRT TORONTO Lesch-Nyhan syndrome HPRT FUJIMI not provided
Reversed 0
HGVS NC_000023.10:g.133609227C>G; NC_000023.10:g.133609227C>T
CLNSRC OMIM Allelic Variant HGMD
CLNACC RCV000010759.2, RCV000010760.1, RCV000010761.5, RCV000010762.1, RCV000153366.3,