Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs193929337
rs193929337
KCNJ11
0.020 GeneticVariation BEFREE First case of neonatal diabetes with KCNJ11 Q52R mutation successfully switched from insulin to sulphonylurea treatment. 28083968

2017
dbSNP: rs193929337
rs193929337
KCNJ11
0.020 GeneticVariation BEFREE Some mutations in this gene, including p.Q52R, are associated with the developmental delay, epilepsy, neonatal diabetes (DEND) syndrome. 24150202

2014