Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80356611
rs80356611
Entrez Id: 3767
Gene Symbol: KCNJ11
KCNJ11
CUI: C1853564
Disease:
Developmental Delay, Epilepsy, and Neonatal Diabetes
0.010 GeneticVariation BEFREE Neurological improvement was observed in two patients, one with DEND (T293N) and one with iDEND (R50P) syndrome. 27681997 2017