DisGeNET - a database of gene-disease associations

List of associated variants

Developmental Delay, Epilepsy, and Neonatal Diabetes, C1853564

Source: ALL

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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
rs80356611	KCNJ11	0.790	0.240	11	17387943	missense variant	C/A;G;T	snv	4.0E-06		10
rs193929358	KCNJ11	0.851	0.240	11	17387091	missense variant	C/T	snv			5
rs80356637	ABCC8	0.851	0.240	11	17470119	missense variant	A/C;G	snv			4
rs80356615	KCNJ11	0.851	0.240	11	17387934	missense variant	C/T	snv			4