DisGeNET - a database of gene-disease associations

List of associated variants

Diabetic Retinopathy, C0011884

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
rs1617640	EPO	0.742	0.520	7	100719675	upstream gene variant	C/A;G;T	snv			15
rs507392	EPO	0.925	0.160	7	100722313	intron variant	G/A;C	snv			2
rs551238	EPO	0.925	0.160	7	100723905	downstream gene variant	G/T	snv		0.62	5
rs1799768	SERPINE1	0.807	0.360	7	101126425	upstream gene variant	-/A;C	ins			6
rs763351020	SERPINE1	0.633	0.560	7	101132046	missense variant	C/T	snv	4.0E-06		35
rs2070682	SERPINE1	1.000	0.120	7	101133986	intron variant	T/C	snv		0.44	1
rs1400094618	MOK	0.882	0.240	14	102229508	missense variant	A/G	snv			3
rs1416580204	MOK	0.608	0.720	14	102250837	missense variant	C/T	snv	4.0E-06	7.0E-06	49
rs6218	LINC02456 ; HELLPAR ; IGF1	0.732	0.440	12	102399855	3 prime UTR variant	A/G	snv		2.1E-02	13
rs5742612	LOC105369944 ; IGF1	0.752	0.440	12	102481086	intron variant	A/G	snv		5.6E-02	11
rs35767	IGF1 ; LOC105369944	0.763	0.360	12	102481791	upstream gene variant	A/C;G;T	snv			13
rs1799969	ICAM1	0.637	0.560	19	10284116	missense variant	G/A	snv	0.11	9.3E-02	38
rs5498	ICAM4 ; ICAM1	0.531	0.760	19	10285007	missense variant	A/G	snv	0.44	0.37	99
rs202069793	LOC107987105	1.000	0.120	9	104713014	intergenic variant	GA/-	delins		0.63	1
rs2300993	MAN2A1	1.000	0.120	5	109702928	intron variant	G/A	snv		0.16	1
rs12656571	MAN2A1	1.000	0.120	5	109742339	intron variant	G/A	snv		0.17	1
rs713041	GPX4	0.776	0.400	19	1106616	stop gained	T/A;C	snv	4.2E-06; 0.58		16
rs671	ALDH2	0.529	0.840	12	111803962	missense variant	G/A	snv	1.9E-02	5.8E-03	116
rs2230774	ROCK2	0.807	0.240	2	11218994	missense variant	G/C;T	snv	0.49		12
rs7903146	TCF7L2	0.554	0.680	10	112998590	intron variant	C/G;T	snv			93
rs11196205	TCF7L2	0.827	0.200	10	113047288	intron variant	G/A;C;T	snv			7
rs1249719	COL27A1	1.000	0.120	9	114235944	intron variant	G/A	snv		6.8E-02	2
rs142610219	LOC107986902	1.000	0.120	8	115906039	intergenic variant	A/T	snv		2.7E-03	1
rs10759931		0.790	0.360	9	117701869	upstream gene variant	G/A;T	snv			9
rs1927914	TLR4	0.732	0.520	9	117702447	upstream gene variant	G/A	snv		0.52	14