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
rs2430561	IFNG ; IFNG-AS1	0.590	0.760	12	68158742	intron variant	T/A	snv		0.36	50
rs4977574	CDKN2B-AS1	0.695	0.520	9	22098575	intron variant	A/G;T	snv			26
rs10911021	LOC105371642 ; LINC01344	0.807	0.160	1	182112825	intron variant	C/T	snv		0.36	11
rs17465637	MIA3	0.790	0.200	1	222650187	intron variant	A/C;G;T	snv	0.64; 6.4E-06		11
rs2968857	KCNH2	1.000	0.080	7	150965242	intron variant	C/T	snv		0.70	2
rs3211892	CD36	1.000	0.080	7	80661053	intron variant	A/G	snv	0.97	0.92	2
rs3853601	DDX39B ; ATP6V1G2-DDX39B	1.000	0.080	6	31531826	intron variant	C/G	snv		0.13	2
rs11568023	AGT			1	230712433	intron variant	G/A;T	snv			1
rs1904694	PRKG1			10	51145734	intron variant	A/G	snv		0.45	1
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs662	PON1	0.485	0.840	7	95308134	missense variant	T/C	snv	0.38	0.42	157
rs699	AGT	0.501	0.800	1	230710048	missense variant	A/G	snv	0.55	0.58	134
rs2476601	AP4B1-AS1 ; PTPN22	0.498	0.800	1	113834946	missense variant	A/G	snv	0.93	0.93	121
rs854560	PON1	0.513	0.800	7	95316772	missense variant	A/C;G;N;T	snv	0.29		113
rs1267969615	ACE	0.532	0.760	17	63490960	missense variant	T/C	snv	4.0E-06		100
rs4994	ADRB3	0.578	0.640	8	37966280	missense variant	A/G	snv	0.11	9.2E-02	65
rs76992529	TTR	0.653	0.560	18	31598655	missense variant	G/A	snv	1.1E-03	4.9E-03	36
rs121918460	PTPN11	0.708	0.400	12	112450364	missense variant	T/A;G	snv	4.0E-06		27
rs2230806	ABCA1	0.689	0.280	9	104858586	missense variant	C/T	snv	0.32	0.39	24
rs7493	PON2	0.677	0.440	7	95405463	missense variant	G/C	snv	0.27	0.27	24
rs104894833	RPL36A-HNRNPH2 ; GLA	0.776	0.280	X	101403984	missense variant	C/G	snv	1.2E-04	1.9E-05	11
rs58034145	LMNA	0.827	0.160	1	156134830	missense variant	A/C	snv			10
rs532019808	NOX4	0.827	0.120	11	89451807	missense variant	G/A;C	snv	4.0E-06; 4.0E-06		8