Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852497
rs137852497
HPRT1
0.710 GeneticVariation BEFREE All mutations, except c.508C>T (p.Arg170Ter), were found in single families only, indicating the lack of any common mutation causing HPRT deficiency in Poland. 19016344

2008
dbSNP: rs137852497
rs137852497
HPRT1
T 0.710 CausalMutation CLINVAR