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rs137852483

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852483(A;A)
Make rs137852483(A;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position134490192
GeneHPRT1
is asnp
is mentioned by
dbSNPrs137852483
ebirs137852483
HLIrs137852483
Exacrs137852483
Varsomers137852483
Maprs137852483
PheGenIrs137852483
hapmaprs137852483
1000 genomesrs137852483
hgdprs137852483
ensemblrs137852483
gopubmedrs137852483
geneviewrs137852483
scholarrs137852483
googlers137852483
pharmgkbrs137852483
gwascentralrs137852483
openSNPrs137852483
23andMers137852483
23andMe allrs137852483
SNP Nexus

SNPshotrs137852483
SNPdbers137852483
MSV3drs137852483
GWAS Ctlgrs137852483
Max Magnitude0
OMIM308000
Desc
Variant0012
Relatedalso
ClinVar
Risk rs137852483(A;A)
Alt rs137852483(A;A)
Reference rs137852483(T;T)
Significance Other
Disease Lesch-Nyhan syndrome HPRT MIDLAND
Variation info
Gene HPRT1
CLNDBN Lesch-Nyhan syndrome HPRT MIDLAND
Reversed 0
HGVS NC_000023.10:g.133624222T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010734.2, RCV000010735.1,