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rs137852481

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852481(A;A)
Make rs137852481(A;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position134475268
GeneHPRT1
is asnp
is mentioned by
dbSNPrs137852481
ebirs137852481
HLIrs137852481
Exacrs137852481
Varsomers137852481
Maprs137852481
PheGenIrs137852481
hapmaprs137852481
1000 genomesrs137852481
hgdprs137852481
ensemblrs137852481
gopubmedrs137852481
geneviewrs137852481
scholarrs137852481
googlers137852481
pharmgkbrs137852481
gwascentralrs137852481
openSNPrs137852481
23andMers137852481
23andMe allrs137852481
SNP Nexus

SNPshotrs137852481
SNPdbers137852481
MSV3drs137852481
GWAS Ctlgrs137852481
Max Magnitude0
OMIM308000
Desc
Variant0008
Relatedalso
ClinVar
Risk rs137852481(A;A)
Alt rs137852481(A;A)
Reference rs137852481(C;C)
Significance Other
Disease Lesch-Nyhan syndrome HPRT FLINT
Variation info
Gene HPRT1
CLNDBN Lesch-Nyhan syndrome HPRT FLINT
Reversed 0
HGVS NC_000023.10:g.133609298C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010726.2, RCV000010727.1,