DisGeNET - a database of gene-disease associations

List of associated variants

Coronary heart disease, C0010068

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
rs1044250	ANGPTL4	0.807	0.240	19	8371280	missense variant	C/T	snv	0.30	0.29	12
rs1044925	SOAT1	0.827	0.120	1	179354603	3 prime UTR variant	C/A;G	snv			6
rs10455872	LPA	0.662	0.320	6	160589086	intron variant	A/G	snv		4.3E-02	33
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs10468017	ALDH1A2	0.851	0.120	15	58386313	intron variant	C/T	snv		0.24	12
rs10484404	ZNF165 ; ZSCAN16-AS1	1.000	0.040	6	28087717	intron variant	C/T	snv		0.15	1
rs104893904	NKX2-5	0.807	0.160	5	173235023	missense variant	C/G	snv	1.1E-03	7.1E-04	6
rs104894654	DTNA	0.925	0.080	18	34794250	missense variant	C/T	snv	1.6E-05	2.1E-05	2
rs1048990	PSMA6	0.790	0.280	14	35292469	5 prime UTR variant	C/G;T	snv	0.19; 4.0E-06		8
rs1049007	BMP2	1.000	0.040	20	6770387	synonymous variant	A/C;G	snv	0.67		1
rs1049255	CYBA	0.776	0.320	16	88643329	3 prime UTR variant	C/T	snv	0.49	0.48	9
rs1049353	CNR1	0.630	0.600	6	88143916	synonymous variant	C/T	snv	0.21	0.20	42
rs1049673	CD36	0.807	0.160	7	80677034	3 prime UTR variant	C/G;T	snv			7
rs10498725	CARMIL1	1.000	0.040	6	25454787	intron variant	C/T	snv		0.17	3
rs10503669		0.925	0.080	8	19990179	intergenic variant	C/A	snv		8.4E-02	8
rs1050450	GPX1	0.623	0.600	3	49357401	missense variant	G/A	snv	0.28	0.30	43
rs10509681	CYP2C8	0.807	0.160	10	95038992	missense variant	T/C	snv	8.3E-02	8.0E-02	8
rs1050993	MTR	1.000	0.040	1	236899005	3 prime UTR variant	A/G;T	snv			1
rs1051266	SLC19A1	0.627	0.640	21	45537880	missense variant	T/C;G	snv	0.55; 4.4E-06		41
rs1051338	LIPA	0.807	0.120	10	89247603	missense variant	T/G	snv	0.32	0.26	7
rs1051339	LIPA	0.882	0.040	10	89247582	missense variant	C/T	snv	9.5E-02	0.13	3
rs10514610	IRF8	1.000	0.040	16	85908569	intron variant	G/A;C	snv		0.12	1
rs1051730	CHRNA3	0.641	0.600	15	78601997	synonymous variant	G/A	snv	0.27	0.26	43
rs1051931	PLA2G7	0.708	0.400	6	46705206	missense variant	A/G	snv	0.81	0.79	19
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147