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
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
rs854560	PON1	0.513	0.800	7	95316772	missense variant	A/C;G;N;T	snv	0.29		113
rs763059810	CXCR4	0.623	0.600	2	136115750	missense variant	T/C	snv	4.0E-06		41
rs16139	NPY ; LOC107986777	0.658	0.560	7	24285260	missense variant	T/A;C	snv	4.0E-06; 3.0E-02		36
rs1799883	FABP2	0.658	0.440	4	119320747	missense variant	T/A;C;G	snv	0.73		36
rs5882	CETP	0.649	0.400	16	56982180	missense variant	G/A;C	snv	0.62		35
rs2295490	TRIB3	0.724	0.320	20	388261	missense variant	A/G;T	snv	0.18; 4.0E-06		16
rs2075291	APOA5 ; ZPR1	0.752	0.400	11	116790676	missense variant	C/A;T	snv	6.4E-03; 4.0E-06		15
rs121908029	LDLR	0.763	0.200	19	11105588	stop gained	G/A;C;T	snv	1.6E-05; 1.6E-05; 8.1E-06		13
rs536289169	GSTM1 ; GSTM2	0.752	0.360	1	109688180	missense variant	C/T	snv	4.8E-04		13
rs4754	SPP1	0.752	0.360	4	87981540	missense variant	T/A;C	snv	0.32		12
rs1466535	LRP1	0.790	0.160	12	57140687	intron variant	G/A;C	snv			9
rs879254850	MIR6886 ; LDLR	0.776	0.160	19	11113365	missense variant	A/G;T	snv	4.0E-06		9
rs9632884	CDKN2B-AS1	0.851	0.160	9	22072302	intron variant	G/A;C	snv			6
rs774439908	MIR6886 ; LDLR	0.827	0.160	19	11113348	stop gained	C/A;G;T	snv	4.0E-06; 4.0E-06		5
rs877087	RYR3	0.882	0.080	15	33582074	intron variant	T/C;G	snv			4
rs879922	ACE2	0.882	0.160	X	15572684	intron variant	C/G	snv			4
rs771479424	PCSK9	0.882	0.120	1	55052764	stop gained	A/G;T	snv	1.2E-05		3
rs757818668	PTX3 ; VEPH1	0.925	0.120	3	157442729	missense variant	G/A	snv	1.2E-05		2
rs2876300	PHACTR1	1.000	0.080	6	12893871	intron variant	A/C;G	snv			1
rs7265169	TRIB3	1.000	0.080	20	384103	intron variant	C/A;T	snv			1
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs367650109	PTGS2	1.000	0.080	1	186675959	missense variant	A/G	snv	4.0E-06	2.1E-05	1