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
rs13003941	ERBB4	0.925	0.040	2	211378978	3 prime UTR variant	G/C;T	snv		0.26	2
rs1595064	ERBB4	0.925	0.040	2	211378020	3 prime UTR variant	G/A;C	snv			2
rs1595065	ERBB4	0.925	0.040	2	211377916	3 prime UTR variant	G/A	snv		0.73	2
rs3748960	ERBB4	0.925	0.040	2	211383109	3 prime UTR variant	C/T	snv		0.96	2
rs7521023	CASQ2	1.000	0.040	1	115700759	3 prime UTR variant	G/A	snv		0.64	2
rs3829365	POSTN	0.925	0.040	13	37598759	5 prime UTR variant	G/A;C	snv	4.0E-06; 0.11		3
rs5443	CDCA3 ; GNB3	0.532	0.760	12	6845711	synonymous variant	C/T	snv	0.36	0.44	106
rs4898	TIMP1 ; SYN1 ; MIR4769	0.672	0.520	X	47585586	synonymous variant	T/C	snv	0.46	0.46	25
rs737337	DOCK6	0.925	0.040	19	11236817	synonymous variant	T/C	snv	0.15	0.20	6
rs1429117513	LAG3	0.925	0.040	12	6775316	synonymous variant	T/C	snv	4.0E-06		2
rs1805126	SCN5A	0.925	0.040	3	38550915	synonymous variant	A/G	snv	0.39	0.44	2
rs6123837	GNAS ; LOC101927932	0.925	0.040	20	58890516	synonymous variant	G/A	snv		0.30	2
rs28362491	LOC105377621 ; NFKB1	0.592	0.720	4	102500998	non coding transcript exon variant	ATTG/-	delins			56
rs911119	CST3	0.807	0.120	20	23632100	non coding transcript exon variant	C/G;T	snv			9
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs699	AGT	0.501	0.800	1	230710048	missense variant	A/G	snv	0.55	0.58	134
rs1801282	PPARG	0.500	0.840	3	12351626	missense variant	C/G	snv	0.11	8.9E-02	131
rs1805192	PPARG	0.510	0.840	3	12379739	missense variant	C/G	snv			121
rs671	ALDH2	0.529	0.840	12	111803962	missense variant	G/A	snv	1.9E-02	5.8E-03	116
rs1267969615	ACE	0.532	0.760	17	63490960	missense variant	T/C	snv	4.0E-06		100
rs1137101	LEPR	0.554	0.760	1	65592830	missense variant	A/G	snv	0.51	0.50	77
rs104894229	LRRC56 ; HRAS	0.564	0.600	11	534289	missense variant	C/A;G;T	snv			73