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
rs383830		0.882	0.040	5	100613278	intergenic variant	A/T	snv		0.76	3
rs2075674	TFR2	1.000	0.040	7	100627408	synonymous variant	G/A	snv	0.18	0.16	2
rs7385804	TFR2	0.851	0.120	7	100638347	intron variant	C/A	snv		0.65	14
rs7801190	SLC12A9	1.000	0.040	7	100860471	non coding transcript exon variant	C/G	snv		9.9E-02	2
rs763802417	NOX1	0.882	0.040	X	100862805	missense variant	G/A	snv	5.9E-06		5
rs2227631	SERPINE1	0.742	0.200	7	101126257	upstream gene variant	A/G	snv		0.54	13
rs1799889	SERPINE1	0.649	0.600	7	101126430	upstream gene variant	A/G	snv			31
rs8025174		1.000	0.040	15	101279548	upstream gene variant	C/A;T	snv			1
rs2288349	DNMT1	0.882	0.120	19	10146569	intron variant	G/A	snv	0.36	0.35	5
rs3736234	OLR1	0.851	0.040	12	10160535	non coding transcript exon variant	G/A	snv		0.40	4
rs11053646	OLR1	0.724	0.280	12	10160849	missense variant	C/G	snv	0.11	0.13	18
rs2228612	DNMT1	0.763	0.160	19	10162696	missense variant	T/A;C;G	snv	0.14		12
rs16999593	DNMT1	0.742	0.240	19	10180505	missense variant	T/C	snv	2.4E-02	9.6E-03	14
rs10420321	DNMT1	0.925	0.080	19	10189741	intron variant	A/G	snv		0.11	2
rs1416580204	MOK	0.608	0.720	14	102250837	missense variant	C/T	snv	4.0E-06	7.0E-06	49
rs1420101	IL1RL1 ; IL18R1	0.827	0.280	2	102341256	synonymous variant	C/T	snv	0.33	0.35	8
rs13114738	SLC39A8	0.851	0.120	4	102363708	intron variant	C/A;T	snv			16
rs28362491	LOC105377621 ; NFKB1	0.592	0.720	4	102500998	non coding transcript exon variant	ATTG/-	delins			56
rs223469	LOC102723704	1.000	0.040	4	102778621	intergenic variant	T/C	snv		0.99	1
rs12147254	TRAF3	0.851	0.240	14	102799329	intron variant	G/A	snv		0.23	4
rs1799750	WTAPP1 ; MMP1	0.592	0.760	11	102799765	intron variant	C/-	delins		0.50	48
rs1004467	CYP17A1 ; CYP17A1-AS1	0.790	0.280	10	102834750	non coding transcript exon variant	A/G	snv	0.15	0.14	13
rs4919687	CYP17A1	0.742	0.160	10	102835491	non coding transcript exon variant	G/A	snv		0.25	14
rs3824755	CYP17A1	0.925	0.120	10	102836092	intron variant	G/A;C;T	snv			5
rs679620	MMP3	0.716	0.360	11	102842889	missense variant	T/C	snv	0.58	0.57	17