DisGeNET - a database of gene-disease associations

List of associated variants

Arteriosclerosis, C0003850

Source: ALL

Results per page

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
rs1799883	FABP2	0.658	0.440	4	119320747	missense variant	T/A;C;G	snv	0.73		36
rs17611	C5	0.732	0.480	9	121006922	missense variant	C/T	snv	0.47	0.36	14
rs121918313	LRP6 ; BCL2L14	0.851	0.080	12	12164494	missense variant	G/A	snv	1.6E-05		4
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
rs1440763451	PPARG	0.882	0.080	3	12416849	missense variant	A/G	snv	4.0E-06		4
rs10846744	SCARB1	0.763	0.160	12	124827879	intron variant	G/C	snv		0.32	11
rs1447295	CASC8	0.658	0.400	8	127472793	intron variant	A/C;T	snv			29
rs2167270	LEP	0.724	0.280	7	128241296	5 prime UTR variant	G/A	snv		0.37	17
rs2736100	TERT	0.550	0.880	5	1286401	3 prime UTR variant	C/A	snv		0.52	83
rs11556924	ZC3HC1	0.752	0.240	7	130023656	missense variant	C/A;T	snv	4.0E-06; 0.28		21
rs2298566	SNX19	0.827	0.040	11	130880747	missense variant	A/C;T	snv	0.77; 4.0E-06		5
rs12190287	TCF21	0.708	0.280	6	133893387	3 prime UTR variant	C/G;T	snv			19
rs773297988	PIK3CB	0.882	0.080	3	138698965	missense variant	T/C	snv	4.0E-06	3.5E-05	4
rs4552883		0.925	0.040	8	139234730	regulatory region variant	G/A;C	snv			2
rs1878406		0.807	0.200	4	147472512	intergenic variant	C/A;G;T	snv			7
rs587745372	GJA5 ; LOC102723321	0.851	0.240	1	147773383	upstream gene variant	T/A	snv		2.8E-05	7
rs5182	AGTR1	0.742	0.160	3	148741608	synonymous variant	C/T	snv	0.49	0.41	16
rs1042713	ADRB2	0.576	0.800	5	148826877	missense variant	G/A	snv	0.42	0.43	63
rs353291	CARMN ; MIR145	0.807	0.200	5	149431183	non coding transcript exon variant	T/C	snv		0.35	6
rs1490867890	MCL1 ; LOC107985203	0.882	0.080	1	150579475	missense variant	G/A;C	snv			3
rs750805885	MCL1 ; LOC107985203	0.882	0.080	1	150579475	frameshift variant	-/C	delins	4.7E-06		3
rs375752214	NOS3	0.708	0.400	7	150998541	missense variant	C/T	snv	4.1E-06	4.2E-05	22
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246