rs140646329, KCNJ10

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Seizures
CUI: C0036572
Disease: Seizures
0.010 GeneticVariation BEFREE We identified two heterozygous KCNJ10 mutations (p.R18Q and p.V84M) in three children (two unrelated families) with seizures, ASD, and intellectual disability. 21458570 2011
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
0.010 GeneticVariation BEFREE We identified two heterozygous KCNJ10 mutations (p.R18Q and p.V84M) in three children (two unrelated families) with seizures, ASD, and intellectual disability. 21458570 2011