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rs137852496

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852496(A;A)
Make rs137852496(A;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position134493533
GeneHPRT1
is asnp
is mentioned by
dbSNPrs137852496
ebirs137852496
HLIrs137852496
Exacrs137852496
Varsomers137852496
Maprs137852496
PheGenIrs137852496
hapmaprs137852496
1000 genomesrs137852496
hgdprs137852496
ensemblrs137852496
gopubmedrs137852496
geneviewrs137852496
scholarrs137852496
googlers137852496
pharmgkbrs137852496
gwascentralrs137852496
openSNPrs137852496
23andMers137852496
23andMe allrs137852496
SNP Nexus

SNPshotrs137852496
SNPdbers137852496
MSV3drs137852496
GWAS Ctlgrs137852496
Max Magnitude0
OMIM308000
Desc
Variant0037
Relatedalso
ClinVar
Risk rs137852496(A;A)
Alt rs137852496(A;A)
Reference rs137852496(T;T)
Significance Pathogenic
Disease Lesch-Nyhan syndrome
Variation info
Gene HPRT1
CLNDBN Lesch-Nyhan syndrome
Reversed 0
HGVS NC_000023.10:g.133627563T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010765.5,