DisGeNET - a database of gene-disease associations

List of associated variants

Congestive heart failure, C0018802

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
rs76992529	TTR	0.653	0.560	18	31598655	missense variant	G/A	snv	1.1E-03	4.9E-03	36
rs671	ALDH2	0.529	0.840	12	111803962	missense variant	G/A	snv	1.9E-02	5.8E-03	116
rs1800888	ADRB2	0.695	0.400	5	148827322	missense variant	C/T	snv	9.1E-03	9.1E-03	23
rs1800730	HFE ; LOC108783645	0.649	0.480	6	26090957	missense variant	A/T	snv	1.0E-02	1.0E-02	32
rs1799895	SOD3	0.683	0.360	4	24800212	missense variant	C/G	snv	2.3E-02	1.2E-02	26
rs8179090	TIMP2	0.752	0.280	17	78925807	upstream gene variant	C/G	snv		1.6E-02	12
rs34376731	PPP1R1A	0.925	0.040	12	54581014	missense variant	C/T	snv	4.6E-03	1.9E-02	2
rs1249958	PPP1R1A	0.925	0.040	12	54582053	missense variant	C/T	snv		2.7E-02	3
rs3798220	LPA	0.732	0.160	6	160540105	missense variant	T/C	snv	5.6E-02	3.1E-02	16
rs1800206	PPARA	0.641	0.640	22	46218377	missense variant	C/G	snv	4.3E-02	4.2E-02	35
rs10455872	LPA	0.662	0.320	6	160589086	intron variant	A/G	snv		4.3E-02	33
rs2073440	HDC	0.851	0.200	15	50242317	missense variant	T/G	snv	3.4E-02	5.9E-02	4
rs140226130	CCDC178	0.790	0.200	18	33336845	intron variant	-/CTTTTTGCT	delins		7.8E-02	8
rs73956431	B4GALT6	0.827	0.120	18	31699870	regulatory region variant	C/T	snv		8.4E-02	6
rs8187710	ABCC2	0.827	0.200	10	99851537	missense variant	G/A	snv	5.3E-02	8.5E-02	6
rs12567209		0.807	0.080	1	162066689	upstream gene variant	G/A	snv		8.6E-02	6
rs1801282	PPARG	0.500	0.840	3	12351626	missense variant	C/G	snv	0.11	8.9E-02	131
rs2230345	GRK5	0.807	0.160	10	119326585	missense variant	A/T	snv	3.8E-02	9.0E-02	6
rs2276109	MMP12	0.701	0.440	11	102875061	upstream gene variant	T/C	snv		9.2E-02	18
rs6787362	FRMD4B	0.925	0.040	3	69178228	intron variant	A/G	snv		9.3E-02	2
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs17859821	MMP2	1.000	0.040	16	55478141	intron variant	G/A;C	snv		0.11	2
rs4762	AGT	0.637	0.440	1	230710231	missense variant	G/A	snv	0.12	0.11	35
rs4149056	SLCO1B1	0.633	0.480	12	21178615	missense variant	T/C	snv	0.13	0.12	45
rs3212247	RIPK3	0.925	0.040	14	24340589	upstream gene variant	A/G	snv		0.12	2