DisGeNET - a database of gene-disease associations

List of associated variants

Heart Diseases, C0018799

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
rs763802417	NOX1	0.882	0.040	X	100862805	missense variant	G/A	snv	5.9E-06		5
rs28935490	RPL36A-HNRNPH2 ; GLA	1.000	0.160	X	101398432	missense variant	C/A;T	snv	3.0E-03; 5.4E-06		3
rs104894833	RPL36A-HNRNPH2 ; GLA	0.776	0.280	X	101403984	missense variant	C/G	snv	1.2E-04	1.9E-05	11
rs2230806	ABCA1	0.689	0.280	9	104858586	missense variant	C/T	snv	0.32	0.39	24
rs599839	PSRC1	0.724	0.360	1	109279544	downstream gene variant	G/A;C	snv			27
rs121918460	PTPN11	0.708	0.400	12	112450364	missense variant	T/A;G	snv	4.0E-06		27
rs2476601	AP4B1-AS1 ; PTPN22	0.498	0.800	1	113834946	missense variant	A/G	snv	0.93	0.93	121
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs9818870	MRAS	0.807	0.200	3	138403280	3 prime UTR variant	C/A;T	snv			9
rs199472968	KCNH2	0.925	0.120	7	150951484	missense variant	C/T	snv			3
rs2968857	KCNH2	1.000	0.080	7	150965242	intron variant	C/T	snv		0.70	2
rs373721390	LMNA			1	156114996	synonymous variant	C/T	snv	2.2E-05	2.8E-05	1
rs59270054	LMNA	0.925	0.120	1	156115162	missense variant	G/A;C	snv			6
rs58034145	LMNA	0.827	0.160	1	156134830	missense variant	A/C	snv			10
rs121909298	SGCD	0.925	0.040	5	156595000	missense variant	T/G	snv	2.0E-04	1.3E-04	4
rs10911021	LOC105371642 ; LINC01344	0.807	0.160	1	182112825	intron variant	C/T	snv		0.36	11
rs397515126	TSC2			16	2084306	frameshift variant	-/TCTCCTCG	delins			1
rs4977574	CDKN2B-AS1	0.695	0.520	9	22098575	intron variant	A/G;T	snv			26
rs17465637	MIA3	0.790	0.200	1	222650187	intron variant	A/C;G;T	snv	0.64; 6.4E-06		11
rs699	AGT	0.501	0.800	1	230710048	missense variant	A/G	snv	0.55	0.58	134
rs11568023	AGT			1	230712433	intron variant	G/A;T	snv			1
rs3853601	DDX39B ; ATP6V1G2-DDX39B	1.000	0.080	6	31531826	intron variant	C/G	snv		0.13	2
rs76992529	TTR	0.653	0.560	18	31598655	missense variant	G/A	snv	1.1E-03	4.9E-03	36