DisGeNET - a database of gene-disease associations

List of associated variants

DIABETES MELLITUS, PERMANENT NEONATAL, C1833104

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
rs80356624	KCNJ11	0.752	0.240	11	17387490	missense variant	C/A;T	snv			16
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
rs193922402	ABCC8	0.807	0.160	11	17395611	stop gained	G/A	snv	1.3E-05	7.0E-06	6
rs72559722	ABCC8	0.807	0.160	11	17412716	stop gained	G/A	snv	6.1E-05	2.1E-05	6
rs72559734	ABCC8	0.807	0.160	11	17474955	missense variant	C/A;T	snv	4.0E-06; 8.0E-06		6
rs193929337	KCNJ11	0.827	0.160	11	17387937	missense variant	T/C	snv			6
rs80356610	KCNJ11	0.827	0.080	11	17387968	missense variant	A/G	snv			6
rs80356625	KCNJ11	0.827	0.280	11	17387491	missense variant	G/A	snv			6
rs1554948310	ABCC8	0.827	0.160	11	17474884	splice donor variant	A/G	snv			5
rs72559715	ABCC8	0.827	0.160	11	17394379	missense variant	C/T	snv		7.0E-06	5
rs80356664	INS-IGF2 ; INS	0.882	0.120	11	2160878	missense variant	C/G;T	snv			5
rs193929358	KCNJ11	0.851	0.240	11	17387091	missense variant	C/T	snv			5
rs267607196	KCNJ11	0.827	0.160	11	17387248	missense variant	C/T	snv	2.4E-05	2.8E-05	5
rs148311934	LOC105375258 ; GCK	0.827	0.080	7	44149763	missense variant	C/T	snv	8.0E-06	1.4E-05	5
rs587780345	LOC105375258 ; GCK	0.851	0.080	7	44150004	missense variant	C/T	snv			5
rs137852673	ABCC8	0.851	0.120	11	17395915	missense variant	G/A;T	snv	5.0E-06; 2.0E-05		4
rs80356637	ABCC8	0.851	0.240	11	17470119	missense variant	A/C;G	snv			4
rs193922283	GCK	0.851	0.080	7	44145176	missense variant	G/A	snv			4
rs1441649062	GCK ; LOC105375258	0.851	0.080	7	44149822	missense variant	G/A	snv	4.0E-06		4
rs769268803	GCK ; LOC105375258	0.851	0.080	7	44147747	missense variant	C/G;T	snv	4.0E-06		4
rs193929353	KCNJ11	0.882	0.120	11	17387206	missense variant	T/C;G	snv			4
rs193929355	KCNJ11	0.882	0.120	11	17387128	missense variant	C/T	snv			4
rs193929356	KCNJ11	0.925	0.080	11	17387103	missense variant	T/A;C	snv			4