rs193929353, KCNJ11

N. diseases: 4
Disease: Developmental delay (disorder) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
0.010 GeneticVariation BEFREE However, the I296L mutation also results in developmental delay, muscle weakness and epilepsy. 15864298 2005