DisGeNET - a database of gene-disease associations

List of associated variants

Coronary heart disease, C0010068

Source: INFERRED ×

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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
rs2075674	TFR2	1.000	0.040	7	100627408	synonymous variant	G/A	snv	0.18	0.16	1
rs7385804	TFR2	0.851	0.120	7	100638347	intron variant	C/A	snv		0.65	10
rs7801190	SLC12A9	1.000	0.040	7	100860471	non coding transcript exon variant	C/G	snv		9.9E-02	2
rs11053646	OLR1	0.724	0.280	12	10160849	missense variant	C/G	snv	0.11	0.13	1
rs1420101	IL1RL1 ; IL18R1	0.827	0.280	2	102341256	synonymous variant	C/T	snv	0.33	0.35	4
rs13114738	SLC39A8	0.851	0.120	4	102363708	intron variant	C/A;T	snv			16
rs1004467	CYP17A1 ; CYP17A1-AS1	0.790	0.280	10	102834750	non coding transcript exon variant	A/G	snv	0.15	0.14	8
rs4919687	CYP17A1	0.742	0.160	10	102835491	non coding transcript exon variant	G/A	snv		0.25	9
rs3824755	CYP17A1	0.925	0.120	10	102836092	intron variant	G/A;C;T	snv			4
rs5498	ICAM4 ; ICAM1	0.531	0.760	19	10285007	missense variant	A/G	snv	0.44	0.37	2
rs696217	GHRL ; GHRLOS	0.662	0.640	3	10289773	missense variant	G/T	snv	8.8E-02	7.1E-02	2
rs12411886	CNNM2	0.882	0.080	10	102925542	intron variant	C/A	snv		7.8E-02	3
rs12413409	CNNM2	0.790	0.200	10	102959339	intron variant	G/A	snv		9.0E-02	6
rs11191548	CNNM2	0.882	0.080	10	103086421	3 prime UTR variant	T/C	snv		8.6E-02	7
rs974819		0.807	0.080	11	103789839	intron variant	T/A;C	snv			3
rs1165668	TTC41P	1.000	0.040	12	103924218	intron variant	G/A	snv		0.71	1
rs1165669	TTC41P	1.000	0.040	12	103924394	intron variant	A/G	snv		0.71	1
rs11591710		0.882	0.160	10	103927874	intergenic variant	A/C	snv		0.16	1
rs2385168	LHFPL3	1.000	0.040	7	104438209	intron variant	C/A;T	snv		0.41	1
rs189889864		0.925	0.040	9	104634643	downstream gene variant	G/A	snv		2.8E-03	2
rs2066714	ABCA1	0.742	0.240	9	104824472	missense variant	T/C	snv	0.21	0.25	2
rs2066718	ABCA1	0.882	0.120	9	104826974	missense variant	C/G;T	snv	4.3E-04; 5.4E-02		2
rs2515629	ABCA1	1.000	0.040	9	104832083	intron variant	A/G	snv		0.16	3
rs9282541	ABCA1	0.790	0.160	9	104858554	missense variant	G/A	snv	1.3E-02	4.4E-03	3
rs4149268	ABCA1	1.000	0.040	9	104884939	intron variant	C/T	snv		0.46	4