Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1556030169
rs1556030169
HPRT1
AT 0.700 GeneticVariation CLINVAR Human HPRT1 gene and the Lesch-Nyhan disease: Substitution of alanine for glycine and inversely in the HGprt enzyme protein. 28045594

2017
dbSNP: rs1556030169
rs1556030169
HPRT1
AT 0.700 GeneticVariation CLINVAR HPRT deficiency: identification of twenty-four novel variants including an unusual deep intronic mutation. 22132984

2011
dbSNP: rs1556030169
rs1556030169
HPRT1
AT 0.700 GeneticVariation CLINVAR The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases. 11018746

2000