DisGeNET - a database of gene-disease associations

List of associated variants

Coronary Artery Disease, C1956346

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
rs10131519	EML1	1.000	0.040	14	99892957	intron variant	T/C	snv		0.29	1
rs325380	LYSMD4 ; MEF2A	1.000	0.040	15	99716413	missense variant	A/C;T	snv	0.51; 7.6E-06		1
rs325381	LYSMD4 ; MEF2A	1.000	0.040	15	99715609	3 prime UTR variant	A/T	snv		0.80	1
rs897074	MEF2A ; LYSMD4	1.000	0.040	15	99714520	3 prime UTR variant	T/C	snv		0.42	1
rs34851361	MEF2A	1.000	0.040	15	99712687	synonymous variant	A/G	snv	6.1E-02	6.4E-02	1
rs325400	MEF2A	1.000	0.040	15	99712600	synonymous variant	G/T	snv	0.48	0.41	1
rs1344231640	MEF2A	1.000	0.040	15	99712576	missense variant	G/T	snv			1
rs121918531	MEF2A	0.925	0.080	15	99690412	missense variant	G/A	snv	8.3E-06	2.1E-05	2
rs121918529	MEF2A	0.882	0.080	15	99690400	missense variant	C/T	snv	6.1E-04	6.5E-04	3
rs121918530	MEF2A	1.000	0.040	15	99690352	missense variant	A/G	snv	7.8E-04	8.9E-04	1
rs8003602	CYP46A1	0.925	0.120	14	99682624	upstream gene variant	T/C	snv		0.67	2
rs10139550	HHIPL1	1.000	0.040	14	99679373	3 prime UTR variant	C/G	snv		0.39	1
rs2895811	HHIPL1	0.851	0.080	14	99667605	intron variant	T/A;C	snv			4
rs35385902	ADH1C ; ADH1B	0.807	0.240	4	99347122	missense variant	C/A;T	snv	2.0E-05; 1.1E-03		9
rs1229984	ADH1B	0.570	0.560	4	99318162	missense variant	T/C;G	snv	0.90		83
rs7396366	AP2A2	0.925	0.120	11	986185	intron variant	C/A	snv		0.58	2
rs2267788	LOC105371077 ; GRIN2A	0.882	0.040	16	9794742	intron variant	C/T	snv			3
rs10734649	SBF2-AS1 ; LINC02709	1.000	0.040	11	9759344	intron variant	C/A;G;T	snv			1
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
rs472109	SWAP70	1.000	0.040	11	9748771	intron variant	G/C;T	snv			2
rs378825	SWAP70	1.000	0.040	11	9745385	intron variant	A/G	snv		0.56	1
rs10840293	SWAP70	1.000	0.040	11	9729649	intron variant	G/A;C	snv			2
rs9486719	FHL5	1.000	0.040	6	96612248	intron variant	G/A	snv		0.26	2
rs3811951	LOC101929710 ; PCSK1	0.925	0.120	5	96426773	intron variant	A/G	snv		0.28	2
rs6234	PCSK1 ; LOC101929710	0.851	0.160	5	96393270	missense variant	G/C	snv	0.27	0.24	8