Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs115466046
rs115466046
KCNJ10
CUI: C3714756
Disease: Intellectual Disability
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