DisGeNET - a database of gene-disease associations

List of associated variants

Carotid Atherosclerosis, C0577631

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
rs2277680	CXCL16	0.776	0.160	17	4735268	missense variant	G/A	snv	0.47	0.41	10
rs7439293	PALLD	0.807	0.080	4	168756335	non coding transcript exon variant	G/A	snv		0.44	6
rs2274273	DLGAP5	0.882	0.120	14	55147918	downstream gene variant	G/A	snv		0.40	5
rs74577862	ADIPOQ	0.882	0.080	3	186843903	intron variant	G/A	snv		1.8E-02	3
rs757818668	PTX3 ; VEPH1	0.925	0.120	3	157442729	missense variant	G/A	snv	1.2E-05		2
rs200495339	SMARCA4	1.000	0.080	19	11078623	intron variant	G/-	delins		0.12	1
rs4986791	TLR4	0.456	0.840	9	117713324	missense variant	C/T	snv	5.7E-02	4.9E-02	182
rs3856806	PPARG	0.637	0.440	3	12434058	synonymous variant	C/T	snv	0.13	0.11	41
rs3732379	CX3CR1	0.637	0.680	3	39265765	missense variant	C/T	snv	0.22	0.22	38
rs5182	AGTR1	0.742	0.160	3	148741608	synonymous variant	C/T	snv	0.49	0.41	16
rs17611	C5	0.732	0.480	9	121006922	missense variant	C/T	snv	0.47	0.36	14
rs536289169	GSTM1 ; GSTM2	0.752	0.360	1	109688180	missense variant	C/T	snv	4.8E-04		13
rs2074192	ACE2	0.827	0.160	X	15564667	intron variant	C/T	snv		0.40	9
rs374603772	PCSK9	0.776	0.160	1	55058630	missense variant	C/T	snv	4.4E-05	2.8E-05	9
rs16933090	SOX6	0.790	0.160	11	16434247	5 prime UTR variant	C/T	snv		0.12	7
rs2228315	SELPLG	0.807	0.120	12	108624122	missense variant	C/T	snv	0.11	0.14	7
rs2026458	PHACTR1	0.882	0.080	6	12825642	intron variant	C/T	snv		0.34	6
rs12998782	MARCO	0.882	0.160	2	118967804	intron variant	C/T	snv		0.19	3
rs4897549		1.000	0.080	6	131898350	upstream gene variant	C/T	snv		0.30	1
rs2910164	MIR3142HG ; MIR146A	0.447	0.880	5	160485411	mature miRNA variant	C/G	snv	0.71; 4.1E-06	0.70	193
rs738409	PNPLA3	0.557	0.720	22	43928847	missense variant	C/G	snv	0.28	0.22	88
rs2010963	VEGFA	0.542	0.840	6	43770613	5 prime UTR variant	C/G	snv		0.68	82
rs879922	ACE2	0.882	0.160	X	15572684	intron variant	C/G	snv			4
rs2075291	APOA5 ; ZPR1	0.752	0.400	11	116790676	missense variant	C/A;T	snv	6.4E-03; 4.0E-06		15
rs7265169	TRIB3	1.000	0.080	20	384103	intron variant	C/A;T	snv			1