DisGeNET - a database of gene-disease associations

List of shared variants

Coronary Artery Disease, C1956346

Disease: Cardiovascular Diseases

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
rs1537375	CDKN2B-AS1	0.882	0.120	9	22116072	intron variant	T/C;G	snv			6
rs4977574	CDKN2B-AS1	0.695	0.520	9	22098575	intron variant	A/G;T	snv			26
rs3217992	CDKN2B-AS1 ; CDKN2B	0.683	0.480	9	22003224	3 prime UTR variant	C/T	snv		0.32	22
rs12740374	CELSR2	0.851	0.040	1	109274968	3 prime UTR variant	G/T	snv		0.22	16
rs1800775	CETP	0.790	0.240	16	56961324	upstream gene variant	C/A;G	snv	0.51; 5.7E-06		18
rs1800777	CETP	0.724	0.280	16	56983407	missense variant	G/A	snv	3.7E-02	2.8E-02	17
rs5880	CETP	0.827	0.040	16	56981179	missense variant	G/C	snv	5.2E-02	3.7E-02	10
rs5882	CETP	0.649	0.400	16	56982180	missense variant	G/A;C	snv	0.62		35
rs708272	CETP	0.708	0.440	16	56962376	intron variant	G/A	snv	0.42	0.38	24
rs1061170	CFH	0.561	0.720	1	196690107	missense variant	C/T	snv	0.68	0.64	72
rs4818	COMT ; MIR4761	0.683	0.440	22	19963684	synonymous variant	C/G;T	snv	0.34		27
rs911119	CST3	0.807	0.120	20	23632100	non coding transcript exon variant	C/G;T	snv			9
rs1790349	DHCR7	0.882	0.040	11	71431304	intron variant	T/C	snv		0.19	4
rs1282382243	DLEU7-AS1 ; DLEU1 ; DLEU7	0.807	0.120	13	50843630	missense variant	G/A	snv			8
rs36071027	EBF1	0.925	0.080	5	159017266	intron variant	C/T	snv		0.29	4
rs5370	EDN1	0.630	0.520	6	12296022	missense variant	G/T	snv	0.23	0.21	37
rs41507953	EPHX2	0.790	0.280	8	27500988	missense variant	A/G	snv	8.7E-02	0.13	10
rs751141	EPHX2	0.732	0.400	8	27516348	missense variant	G/A	snv	0.12	0.10	16
rs2234693	ESR1	0.555	0.680	6	151842200	intron variant	T/C	snv		0.47	77
rs9340799	ESR1	0.583	0.680	6	151842246	intron variant	A/G	snv		0.32	62
rs4986938	ESR2	0.641	0.600	14	64233098	3 prime UTR variant	C/T	snv	0.31	0.33	35
rs5985	F13A1	0.724	0.280	6	6318562	missense variant	C/A;T	snv	0.20; 2.4E-05		20
rs1188383936	F2	0.524	0.760	11	46725976	missense variant	C/T	snv	8.0E-06		102
rs899127658	F2	0.547	0.720	11	46739084	missense variant	G/A;C	snv			82
rs201058276	F7	0.776	0.240	13	113118731	missense variant	G/A;C	snv	4.8E-05; 4.0E-06		11