Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516362
rs1057516362
HGD
AAT 0.700 GeneticVariation CLINVAR Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy. 25804398

2016
dbSNP: rs1057516362
rs1057516362
HGD
AAT 0.700 GeneticVariation CLINVAR Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients. 9529363

1998