DisGeNET - a database of gene-disease associations

List of shared variants

DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, C1833102

Disease: Developmental Delay, Epilepsy, and Neonatal Diabetes

Source: ALL

Results per page

Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs80356616	KCNJ11	0.732	0.360	11	17387917	missense variant	C/T	snv			19
rs80356615	KCNJ11	0.851	0.240	11	17387934	missense variant	C/T	snv			4
rs80356637	ABCC8	0.851	0.240	11	17470119	missense variant	A/C;G	snv			4