DisGeNET - a database of gene-disease associations

List of associated variants

Neonatal diabetes mellitus, C0158981

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
rs80356624	KCNJ11	0.752	0.240	11	17387490	missense variant	C/A;T	snv			16
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
rs80356625	KCNJ11	0.827	0.280	11	17387491	missense variant	G/A	snv			6
rs193929355	KCNJ11	0.882	0.120	11	17387128	missense variant	C/T	snv			4
rs193929373	LOC105375258 ; GCK	0.882	0.120	7	44147723	missense variant	C/T	snv			4
rs80356615	KCNJ11	0.851	0.240	11	17387934	missense variant	C/T	snv			4
rs193929375	GCK	0.882	0.120	7	44145560	missense variant	C/A	snv			3
rs80356663	INS-IGF2 ; INS	0.925	0.120	11	2160901	missense variant	G/A;T	snv			3
rs193922405	ABCC8	0.925	0.160	11	17394360	missense variant	C/A;T	snv			2
rs193922408	ABCC8	0.925	0.120	11	17393122	missense variant	C/T	snv			2
rs587783673	KCNJ11	1.000	0.120	11	17387407	missense variant	C/T	snv			2
rs797045209	ABCC8	0.925	0.120	11	17404525	missense variant	G/A	snv		7.0E-06	2
rs80356672	INS-IGF2 ; INS	0.925	0.120	11	2159862	missense variant	T/C	snv			2
rs193922396	ABCC8	1.000	0.120	11	17442744	missense variant	A/G	snv			1
rs193922399	ABCC8	1.000	0.120	11	17404527	missense variant	A/C	snv			1
rs193922401	ABCC8	1.000	0.120	11	17395914	missense variant	C/A;T	snv			1
rs193922406	ABCC8	1.000	0.120	11	17393752	missense variant	A/C	snv			1
rs193922407	ABCC8	1.000	0.120	11	17393741	missense variant	C/T	snv			1
rs193922565	KCNJ11	1.000	0.120	11	17388087	missense variant	A/G	snv			1
rs984164636	ABCC8	1.000	0.120	11	17461720	missense variant	T/C	snv			1
rs779736828	ABCC8	0.925	0.120	11	17413396	missense variant	G/A;T	snv	4.0E-06; 4.0E-06		2
rs193922400	ABCC8	0.925	0.120	11	17404524	missense variant	C/A;T	snv	4.0E-06		2
rs193922397	ABCC8	1.000	0.120	11	17442734	missense variant	T/C	snv	4.0E-06		1