DisGeNET - a database of gene-disease associations

List of associated variants

DEND syndrome, C4303593

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
rs80356618	KCNJ11	0.807	0.200	11	17387595	missense variant	C/A;T	snv			8
rs193929337	KCNJ11	0.827	0.160	11	17387937	missense variant	T/C	snv			6
rs80356637	ABCC8	0.851	0.240	11	17470119	missense variant	A/C;G	snv			4
rs80356620	KCNJ11	0.882	0.160	11	17387593	missense variant	T/G	snv			3
rs529884745	KCNJ11	0.925	0.160	11	17387641	missense variant	C/T	snv	2.0E-05	5.6E-05	2
rs1554901822	KCNJ11	1.000	0.040	11	17387723	frameshift variant	-/A	delins			1