Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80356624
rs80356624
KCNJ11
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		0.020 GeneticVariation BEFREE The R201H mutation was identified in a patient who developed hyperglycemia and ketoacidosis at the age of 40 d and was successfully transferred to sulphonylureas which activate the channel through an ATP independent route. 21352428

2011
dbSNP: rs80356624
rs80356624
KCNJ11
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		0.020 GeneticVariation BEFREE Four of the five patients with mutations had neurological features: the patient with the C166F mutation had marked developmental delay, severe generalised epilepsy, hypotonia and muscle weakness; mild developmental delay was present in the patient with the V59M mutation; one patient with the R201H mutation had acute and chronic neurological consequences of cerebral oedema and another had diabetic neuropathy from chronic hyperglycaemia. 16670688

2006