DisGeNET - a database of gene-disease associations

List of shared variants

Diabetic Retinopathy, C0011884

Disease: Diabetes Mellitus, Insulin-Dependent

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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs4986790	TLR4	0.438	0.800	9	117713024	missense variant	A/G;T	snv	6.1E-02; 4.0E-06		223
rs4986791	TLR4	0.456	0.840	9	117713324	missense variant	C/T	snv	5.7E-02	4.9E-02	182
rs1800629	TNF	0.472	0.920	6	31575254	upstream gene variant	G/A	snv	0.12	0.14	169
rs699	AGT	0.501	0.800	1	230710048	missense variant	A/G	snv	0.55	0.58	134
rs1801282	PPARG	0.500	0.840	3	12351626	missense variant	C/G	snv	0.11	8.9E-02	131
rs4880	SOD2	0.500	0.840	6	159692840	missense variant	A/G	snv	0.48	0.47	131
rs1805192	PPARG	0.510	0.840	3	12379739	missense variant	C/G	snv			121
rs1267969615	ACE	0.532	0.760	17	63490960	missense variant	T/C	snv	4.0E-06		100
rs5498	ICAM4 ; ICAM1	0.531	0.760	19	10285007	missense variant	A/G	snv	0.44	0.37	99
rs7903146	TCF7L2	0.554	0.680	10	112998590	intron variant	C/G;T	snv			93
rs2070600	AGER	0.561	0.760	6	32183666	missense variant	C/T	snv	5.3E-02	3.6E-02	82
rs361525	TNF	0.562	0.760	6	31575324	upstream gene variant	G/A	snv		4.6E-02	62
rs1416580204	MOK	0.608	0.720	14	102250837	missense variant	C/T	snv	4.0E-06	7.0E-06	49
rs16139	NPY ; LOC107986777	0.658	0.560	7	24285260	missense variant	T/A;C	snv	4.0E-06; 3.0E-02		36
rs237025	SUMO4 ; TAB2	0.672	0.360	6	149400554	missense variant	G/A	snv	0.55	0.57	26
rs5219	KCNJ11	0.701	0.360	11	17388025	stop gained	T/A;C	snv	0.64		25
rs767649	MIR155HG ; MIR155	0.695	0.480	21	25572410	intron variant	T/A	snv		7.5E-02	18
rs713041	GPX4	0.776	0.400	19	1106616	stop gained	T/A;C	snv	4.2E-06; 0.58		16
rs2292239	ERBB3	0.742	0.480	12	56088396	intron variant	T/G	snv		0.65	13
rs17883901	GCLC	0.851	0.240	6	53545239	intron variant	G/A;T	snv		6.2E-02	6
rs3825932	CTSH	0.827	0.360	15	78943104	intron variant	T/C	snv		0.50	6
rs759853	AKR1B1	0.827	0.320	7	134459206	non coding transcript exon variant	G/A	snv		0.33	6