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rs137852491

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852491(A;A)
Make rs137852491(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position134473465
GeneHPRT1
is asnp
is mentioned by
dbSNPrs137852491
ebirs137852491
HLIrs137852491
Exacrs137852491
Varsomers137852491
Maprs137852491
PheGenIrs137852491
hapmaprs137852491
1000 genomesrs137852491
hgdprs137852491
ensemblrs137852491
gopubmedrs137852491
geneviewrs137852491
scholarrs137852491
googlers137852491
pharmgkbrs137852491
gwascentralrs137852491
openSNPrs137852491
23andMers137852491
23andMe allrs137852491
SNP Nexus

SNPshotrs137852491
SNPdbers137852491
MSV3drs137852491
GWAS Ctlgrs137852491
Max Magnitude0
OMIM308000
Desc
Variant0020
Relatedalso
ClinVar
Risk rs137852491(A;A)
Alt rs137852491(A;A)
Reference rs137852491(G;G)
Significance Pathogenic
Disease Lesch-Nyhan syndrome
Variation info
Gene HPRT1
CLNDBN Lesch-Nyhan syndrome
Reversed 0
HGVS NC_000023.10:g.133607495G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010748.2,