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
rs1800206	PPARA	0.641	0.640	22	46218377	missense variant	C/G	snv	4.3E-02	4.2E-02	35
rs1801253	ADRB1	0.683	0.440	10	114045297	missense variant	G/C	snv	0.74	0.69	34
rs1136201	ERBB2	0.645	0.280	17	39723335	missense variant	A/G;T	snv	0.20		34
rs7799039	LOC105375494	0.649	0.560	7	128238730	upstream gene variant	G/A;C	snv			33
rs10455872	LPA	0.662	0.320	6	160589086	intron variant	A/G	snv		4.3E-02	33
rs1800624	PBX2 ; AGER	0.658	0.480	6	32184610	upstream gene variant	A/G;T	snv			33
rs1061622	TNFRSF1B	0.633	0.760	1	12192898	missense variant	T/G	snv	0.22	0.22	33
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
rs1799752	ACE	0.677	0.480	17	63488529	intron variant	-/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT	delins			25
rs5219	KCNJ11	0.701	0.360	11	17388025	stop gained	T/A;C	snv	0.64		25
rs4898	TIMP1 ; SYN1 ; MIR4769	0.672	0.520	X	47585586	synonymous variant	T/C	snv	0.46	0.46	25
rs1535	FADS2	0.752	0.240	11	61830500	intron variant	A/G	snv		0.31	24
rs1800888	ADRB2	0.695	0.400	5	148827322	missense variant	C/T	snv	9.1E-03	9.1E-03	23
rs10757274	CDKN2B-AS1	0.701	0.320	9	22096056	intron variant	A/G	snv		0.41	22
rs2383207	CDKN2B-AS1	0.695	0.280	9	22115960	intron variant	A/G	snv		0.64	22
rs2276109	MMP12	0.701	0.440	11	102875061	upstream gene variant	T/C	snv		9.2E-02	18
rs1815739	ACTN3	0.763	0.240	11	66560624	stop gained	C/T	snv		0.37	17
rs1801252	ADRB1	0.724	0.320	10	114044277	missense variant	A/G	snv	0.15	0.17	17
rs2383206	CDKN2B-AS1	0.742	0.320	9	22115027	intron variant	A/G	snv		0.49	17
rs1805127	KCNE1	0.732	0.240	21	34449523	missense variant	T/C	snv	0.64	2.0E-04	17
rs1022113606	SOD3	0.732	0.280	4	24800161	missense variant	G/C	snv	1.6E-04	2.1E-05	17
rs3798220	LPA	0.732	0.160	6	160540105	missense variant	T/C	snv	5.6E-02	3.1E-02	16
rs1799998	CYP11B2	0.742	0.200	8	142918184	upstream gene variant	A/G;T	snv		0.38	14
rs141322087	ABCC8	0.851	0.160	11	17404552	missense variant	C/T	snv	1.2E-05	2.1E-05	13