DisGeNET - a database of gene-disease associations

List of associated variants

Hyperglycemia, C0020456

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
rs369841551	MC4R	0.882	0.120	18	60371884	stop gained	G/A;T	snv	4.0E-06		3
rs13412852	LPIN1	0.851	0.120	2	11774815	intron variant	C/T	snv		0.26	4
rs7799039	LOC105375494	0.649	0.560	7	128238730	upstream gene variant	G/A;C	snv			33
rs193922331	LOC105375258 ; GCK	0.882	0.080	7	44147726	missense variant	A/G	snv		7.0E-06	4
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
rs1562715574	LOC105375258 ; GCK	0.925	0.080	7	44147795	missense variant	T/C	snv			2
rs751279776	LOC105375258 ; GCK	0.925	0.080	7	44149986	missense variant	C/T	snv	4.0E-06		2
rs746913146	LOC105375258 ; GCK	1.000	0.040	7	44149816	missense variant	G/A	snv	4.0E-06		1
rs11575937	LMNA	0.653	0.480	1	156136985	missense variant	G/A;T	snv			29
rs267607555	LMNA	0.807	0.280	1	156136009	missense variant	C/T	snv		7.0E-06	6
rs4644	LGALS3	0.732	0.320	14	55138217	missense variant	C/A;G	snv	0.35		14
rs1137101	LEPR	0.554	0.760	1	65592830	missense variant	A/G	snv	0.51	0.50	77
rs11202592	KLLN ; PTEN	0.851	0.200	10	87864461	5 prime UTR variant	C/G	snv	3.8E-03	1.4E-03	5
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
rs1564865302	KCNJ11	0.925	0.040	11	17387395	missense variant	G/A	snv			2
rs146488435	KCNH6	0.851	0.080	17	63533914	missense variant	C/G;T	snv	8.0E-06; 6.4E-05		5
rs1057524907	INS-IGF2 ; INS	0.925	0.080	11	2159907	missense variant	T/C	snv			2
rs1564911425	INS-IGF2 ; INS	0.925	0.080	11	2159895	missense variant	G/C	snv			2
rs10770125	INS-IGF2 ; IGF2 ; IGF2-AS	0.882	0.200	11	2147784	missense variant	A/G	snv	0.49	0.40	4
rs1800797	IL6 ; IL6-AS1 ; STEAP1B	0.605	0.800	7	22726602	non coding transcript exon variant	A/G	snv		0.72	43
rs4402960	IGF2BP2	0.724	0.400	3	185793899	intron variant	G/T	snv		0.38	21
rs12836771	HTR2C ; MIR1912 ; MIR1264	0.882	0.080	X	114650913	intron variant	A/G	snv		0.12	4