Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852489
rs137852489
HPRT1
T 0.700 CausalMutation CLINVAR Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) gene in five Korean families with Lesch-Nyhan syndrome. 9288634

1997
dbSNP: rs137852489
rs137852489
HPRT1
T 0.700 CausalMutation CLINVAR Site specificity of N-methyl-N-nitrosourea-induced transition mutations in the hprt gene. 1934271

1991
dbSNP: rs137852489
rs137852489
HPRT1
T 0.700 CausalMutation CLINVAR Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families. 2347587

1990