DisGeNET - a database of gene-disease associations

List of associated variants

Monogenic diabetes, C3888631

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
rs1260326	GCKR	0.645	0.600	2	27508073	missense variant	T/C;G	snv	0.63; 4.0E-06	0.68	81
rs11575937	LMNA	0.653	0.480	1	156136985	missense variant	G/A;T	snv			29
rs560887	SPC25 ; G6PC2	0.827	0.120	2	168906638	intron variant	T/C	snv	0.79	0.80	18
rs137853238	HNF1A	0.807	0.200	12	120994265	missense variant	G/A	snv			6
rs267607555	LMNA	0.807	0.280	1	156136009	missense variant	C/T	snv		7.0E-06	6
rs137853336	HNF4A	0.851	0.080	20	44413714	missense variant	C/G;T	snv	4.0E-06; 8.0E-05		5
rs764232985	GCK	0.851	0.080	7	44153381	missense variant	C/G;T	snv	4.0E-06		4
rs121908260	INS ; INS-IGF2	0.851	0.160	11	2160835	missense variant	C/T	snv			4
rs1057524902	GCK	0.882	0.080	7	44145495	splice donor variant	A/T	snv			3
rs1057524904	LOC105375258 ; GCK	0.882	0.080	7	44147765	missense variant	G/A	snv			3
rs1057524905	LOC105375258 ; GCK	0.882	0.080	7	44147834	splice acceptor variant	C/T	snv			3
rs369841551	MC4R	0.882	0.120	18	60371884	stop gained	G/A;T	snv	4.0E-06		3
rs1057524900	GCK	0.925	0.080	7	44145173	missense variant	G/A;T	snv	4.2E-06		2
rs1057524901	GCK	0.925	0.080	7	44145190	frameshift variant	G/-	del			2
rs1057524906	GCK	0.925	0.080	7	44153387	missense variant	A/G	snv			2
rs1057524903	GCK ; LOC105375258	0.925	0.080	7	44146466	missense variant	T/C	snv			2
rs1057524908	HNF1A	0.925	0.080	12	120993686	frameshift variant	-/C	delins			2
rs1057524907	INS-IGF2 ; INS	0.925	0.080	11	2159907	missense variant	T/C	snv			2
rs1057524896	HNRNPUL2-BSCL2 ; BSCL2	1.000	0.080	11	62692798	splice acceptor variant	C/G	snv			1