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
rs10932374	ERBB4	0.925	0.040	2	211379678	3 prime UTR variant	G/A	snv		0.23	2
rs13003941	ERBB4	0.925	0.040	2	211378978	3 prime UTR variant	G/C;T	snv		0.26	2
rs1337916669	LOC108783645 ; HFE	0.925	0.040	6	26092879	missense variant	G/T	snv			2
rs1429117513	LAG3	0.925	0.040	12	6775316	synonymous variant	T/C	snv	4.0E-06		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
rs17740607	HDC	0.925	0.160	15	50263347	missense variant	G/A;C	snv	8.5E-02; 4.0E-06		2
rs1805126	SCN5A	0.925	0.040	3	38550915	synonymous variant	A/G	snv	0.39	0.44	2
rs2241562	HRH2	0.925	0.040	5	175684809	intron variant	G/C;T	snv		1.0E-03	2
rs3212247	RIPK3	0.925	0.040	14	24340589	upstream gene variant	A/G	snv		0.12	2
rs3212254	RIPK3 ; ADCY4	0.925	0.040	14	24336257	missense variant	G/A;T	snv	1.2E-05; 7.3E-02		2
rs34376731	PPP1R1A	0.925	0.040	12	54581014	missense variant	C/T	snv	4.6E-03	1.9E-02	2
rs3748960	ERBB4	0.925	0.040	2	211383109	3 prime UTR variant	C/T	snv		0.96	2
rs4822489	SPECC1L-ADORA2A ; ADORA2A ; ADORA2A-AS1	0.925	0.200	22	24437792	intron variant	T/G	snv		0.48	2
rs6123837	GNAS ; LOC101927932	0.925	0.040	20	58890516	synonymous variant	G/A	snv		0.30	2
rs6787362	FRMD4B	0.925	0.040	3	69178228	intron variant	A/G	snv		9.3E-02	2
rs762151808	SERPINA1	0.925	0.040	14	94378559	missense variant	A/C	snv	4.0E-06	7.0E-06	2
rs9303504	PRKCA	0.925	0.040	17	66319248	intron variant	G/C	snv		0.59	2
rs9885413		0.925	0.040	5	110840429	intergenic variant	G/T	snv		0.19	2
rs9909004	PRKCA	0.925	0.040	17	66310015	intron variant	C/T	snv		0.59	2
rs1344172059	ABCC8	0.882	0.080	11	17430838	missense variant	C/T	snv		7.0E-06	12
rs1056892	CBR3-AS1 ; CBR3	0.882	0.160	21	36146408	missense variant	G/A	snv	0.37	0.39	6
rs57045855	LMNA	0.882	0.040	1	156134464	missense variant	A/G;T	snv			6
rs748379243	ERCC8	0.882	0.200	5	60928961	splice acceptor variant	T/A;C	snv	4.0E-06	7.0E-06	6
rs2149954	LINC02227	0.882	0.080	5	158393594	intron variant	C/T	snv		0.37	5