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
rs383830		0.882	0.040	5	100613278	intergenic variant	A/T	snv		0.76	3
rs633185	ARHGAP42	0.925	0.080	11	100722807	intron variant	G/A;C	snv			10
rs604723	ARHGAP42	1.000	0.040	11	100739815	intron variant	T/C	snv		0.78	9
rs7947761	ARHGAP42	1.000	0.040	11	100753868	intron variant	A/G	snv		0.26	1
rs4754698	ARHGAP42	1.000	0.040	11	100761177	intron variant	C/A;G	snv			1
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
rs763351020	SERPINE1	0.633	0.560	7	101132046	missense variant	C/T	snv	4.0E-06		35
rs1050286	OLR1	0.882	0.160	12	10158964	3 prime UTR variant	T/C	snv		0.40	3
rs3736235	OLR1	0.925	0.080	12	10160476	non coding transcript exon variant	T/C	snv	0.43	0.40	2
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
rs3217713	NFKBIZ	1.000	0.040	3	101857185	splice region variant	-/TTCTAGAAAGCTTTAATAACCAC;TTTTAGAAAGCTTTAATAACCAC;TTTTTAGAAAGCTTTAATAACCAC	delins		0.81	1
rs1416580204	MOK	0.608	0.720	14	102250837	missense variant	C/T	snv	4.0E-06	7.0E-06	49
rs11685424	IL1RL1	0.925	0.040	2	102310521	upstream gene variant	G/A	snv		0.54	2
rs950880	IL18R1 ; IL1RL1	1.000	0.040	2	102316102	intron variant	C/A	snv		0.30	3
rs28362491	LOC105377621 ; NFKB1	0.592	0.720	4	102500998	non coding transcript exon variant	ATTG/-	delins			56
rs11568818	MMP7	0.763	0.280	11	102530930	upstream gene variant	T/A;C	snv			15
rs4648004	NFKB1	1.000	0.040	4	102539950	intron variant	A/G	snv		0.26	1
rs230521	NFKB1	0.851	0.160	4	102542171	intron variant	C/G	snv		0.59	4
rs3774968	NFKB1 ; LOC105377347	0.882	0.120	4	102609955	intron variant	A/G	snv		0.64	4
rs1609798	LOC105377347 ; NFKB1	1.000	0.040	4	102616285	intron variant	C/T	snv		0.26	1
rs2239008	MMP1 ; WTAPP1	1.000	0.040	11	102790349	3 prime UTR variant	G/A	snv		0.19	1
rs498186	WTAPP1 ; MMP1	0.925	0.080	11	102798914	intron variant	A/C	snv		0.40	2