Gene: DHTKD1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs117225135
rs117225135
DHTKD1
A 0.800 CausalMutation CLINVAR New Cases of DHTKD1 Mutations in Patients with 2-Ketoadipic Aciduria. 26141459

2016
dbSNP: rs117225135
rs117225135
DHTKD1
A 0.800 CausalMutation CLINVAR Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria. 25860818

2015
dbSNP: rs117225135
rs117225135
DHTKD1
A 0.800 GeneticVariation CLINVAR DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria. 23141293

2012
dbSNP: rs117225135
rs117225135
DHTKD1
A 0.800 CausalMutation CLINVAR DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria. 23141293

2012
dbSNP: rs138884194
rs138884194
DHTKD1
T 0.700 CausalMutation CLINVAR Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria. 25860818

2015
dbSNP: rs745432268
rs745432268
DHTKD1
T 0.700 CausalMutation CLINVAR Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria. 25860818

2015
dbSNP: rs760386662
rs760386662
DHTKD1
A 0.700 GeneticVariation CLINVAR Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria. 25860818

2015
dbSNP: rs760386662
rs760386662
DHTKD1
A 0.700 GeneticVariation CLINVAR DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria. 23141293

2012
dbSNP: rs1554791360
rs1554791360
DHTKD1
GA 0.700 CausalMutation CLINVAR

dbSNP: rs1564391327
rs1564391327
DHTKD1
T 0.700 CausalMutation CLINVAR