DisGeNET - a database of gene-disease associations

Source: UNIPROT

Variants associated to the Disease: Developmental Delay, Epilepsy, and Neonatal Diabetes ×

Variants associated to the Gene: KCNJ11 ×

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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
rs80356611	KCNJ11	0.790	0.240	11	17387943	missense variant	C/A;G;T	snv	4.0E-06		1
rs80356615	KCNJ11	0.851	0.240	11	17387934	missense variant	C/T	snv			1
rs80356616	KCNJ11	0.732	0.360	11	17387917	missense variant	C/T	snv			1