Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs760386662
rs760386662
DHTKD1
CUI: C1859817
Disease: 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA 		A 0.700 GeneticVariation CLINVAR Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria. 25860818

2015
dbSNP: rs760386662
rs760386662
DHTKD1
CUI: C1859817
Disease: 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA 		A 0.700 GeneticVariation CLINVAR DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria. 23141293

2012