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rs137852489

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852489(C;T)
Make rs137852489(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position134486471
GeneHPRT1
is asnp
is mentioned by
dbSNPrs137852489
ebirs137852489
HLIrs137852489
Exacrs137852489
Varsomers137852489
Maprs137852489
PheGenIrs137852489
hapmaprs137852489
1000 genomesrs137852489
hgdprs137852489
ensemblrs137852489
gopubmedrs137852489
geneviewrs137852489
scholarrs137852489
googlers137852489
pharmgkbrs137852489
gwascentralrs137852489
openSNPrs137852489
23andMers137852489
23andMe allrs137852489
SNP Nexus

SNPshotrs137852489
SNPdbers137852489
MSV3drs137852489
GWAS Ctlgrs137852489
Max Magnitude0
OMIM308000
Desc
Variant0018
Relatedalso
ClinVar
Risk rs137852489(A,T;A,T)
Alt rs137852489(A,T;A,T)
Reference rs137852489(C;C)
Significance Pathogenic
Disease Lesch-Nyhan syndrome
Variation info
Gene HPRT1
CLNDBN Lesch-Nyhan syndrome
Reversed 0
HGVS NC_000023.10:g.133620501C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010746.2,