DisGeNET - a database of gene-disease associations

List of shared variants

Diabetic Retinopathy, C0011884

Disease: Coronary heart disease

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
rs1416580204	MOK	0.608	0.720	14	102250837	missense variant	C/T	snv	4.0E-06	7.0E-06	49
rs5498	ICAM4 ; ICAM1	0.531	0.760	19	10285007	missense variant	A/G	snv	0.44	0.37	99
rs671	ALDH2	0.529	0.840	12	111803962	missense variant	G/A	snv	1.9E-02	5.8E-03	116
rs7903146	TCF7L2	0.554	0.680	10	112998590	intron variant	C/G;T	snv			93
rs4986790	TLR4	0.438	0.800	9	117713024	missense variant	A/G;T	snv	6.1E-02; 4.0E-06		223
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs765798193	PSMD9	0.732	0.320	12	121915884	frameshift variant	G/-;GG	delins			18
rs14259	PSMD9	0.724	0.360	12	121915890	missense variant	A/C;G	snv	4.0E-06; 0.32		19
rs5370	EDN1	0.630	0.520	6	12296022	missense variant	G/T	snv	0.23	0.21	37
rs1801282	PPARG	0.500	0.840	3	12351626	missense variant	C/G	snv	0.11	8.9E-02	131
rs1805192	PPARG	0.510	0.840	3	12379739	missense variant	C/G	snv			121
rs3856806	PPARG	0.637	0.440	3	12434058	synonymous variant	C/T	snv	0.13	0.11	41
rs237025	SUMO4 ; TAB2	0.672	0.360	6	149400554	missense variant	G/A	snv	0.55	0.57	26
rs2070744	NOS3	0.608	0.680	7	150992991	intron variant	C/T	snv		0.70	54
rs869109213	NOS3	0.790	0.200	7	150997269	intron variant	GGGGGTGAGGAAGTCTAGACCTGCTGCG/A	delins			10
rs1549758	NOS3	0.807	0.360	7	150998638	synonymous variant	T/C	snv	0.76	0.76	7
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs4880	SOD2	0.500	0.840	6	159692840	missense variant	A/G	snv	0.48	0.47	131
rs5219	KCNJ11	0.701	0.360	11	17388025	stop gained	T/A;C	snv	0.64		25
rs2241766	ADIPOQ ; ADIPOQ-AS1	0.608	0.720	3	186853103	synonymous variant	T/C;G	snv	8.0E-06; 0.13		48
rs1501299	ADIPOQ ; ADIPOQ-AS1	0.597	0.720	3	186853334	intron variant	G/C;T	snv			52
rs7756992	CDKAL1	0.827	0.240	6	20679478	intron variant	A/G;T	snv			12
rs699	AGT	0.501	0.800	1	230710048	missense variant	A/G	snv	0.55	0.58	134
rs16139	NPY ; LOC107986777	0.658	0.560	7	24285260	missense variant	T/A;C	snv	4.0E-06; 3.0E-02		36