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
rs4925	GSTO1	0.677	0.560	10	104263031	missense variant	C/A	snv	0.25	0.23	28
rs2071559	KDR	0.667	0.680	4	55126199	upstream gene variant	A/G	snv		0.53	26
rs10757274	CDKN2B-AS1	0.701	0.320	9	22096056	intron variant	A/G	snv		0.41	22
rs9349379	PHACTR1	0.732	0.200	6	12903725	intron variant	A/G	snv		0.32	19
rs1051931	PLA2G7	0.708	0.400	6	46705206	missense variant	A/G	snv	0.81	0.79	19
rs2383206	CDKN2B-AS1	0.742	0.320	9	22115027	intron variant	A/G	snv		0.49	17
rs5182	AGTR1	0.742	0.160	3	148741608	synonymous variant	C/T	snv	0.49	0.41	16
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
rs11066001	BRAP	0.763	0.360	12	111681367	intron variant	T/C	snv		5.8E-03	15
rs5355	C1orf112 ; SELE	0.742	0.240	1	169726729	missense variant	G/A	snv	4.5E-02	3.3E-02	14
rs17611	C5	0.732	0.480	9	121006922	missense variant	C/T	snv	0.47	0.36	14
rs2066714	ABCA1	0.742	0.240	9	104824472	missense variant	T/C	snv	0.21	0.25	13
rs536289169	GSTM1 ; GSTM2	0.752	0.360	1	109688180	missense variant	C/T	snv	4.8E-04		13
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
rs1761667	CD36	0.752	0.320	7	80615623	intron variant	G/A	snv		0.49	12
rs4754	SPP1	0.752	0.360	4	87981540	missense variant	T/A;C	snv	0.32		12
rs2277680	CXCL16	0.776	0.160	17	4735268	missense variant	G/A	snv	0.47	0.41	10
rs20551	EP300	0.752	0.320	22	41152004	missense variant	A/G	snv	0.31	0.23	10
rs2074192	ACE2	0.827	0.160	X	15564667	intron variant	C/T	snv		0.40	9
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
rs374603772	PCSK9	0.776	0.160	1	55058630	missense variant	C/T	snv	4.4E-05	2.8E-05	9
rs2229116	RYR3	0.827	0.080	15	33613209	missense variant	A/G	snv	0.23	0.21	9
rs2228315	SELPLG	0.807	0.120	12	108624122	missense variant	C/T	snv	0.11	0.14	7