DisGeNET - a database of gene-disease associations

List of associated variants

Heart failure, C0018801

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
rs13114738	SLC39A8	0.851	0.120	4	102363708	intron variant	C/A;T	snv			16
rs28362491	LOC105377621 ; NFKB1	0.592	0.720	4	102500998	non coding transcript exon variant	ATTG/-	delins			56
rs2276109	MMP12	0.701	0.440	11	102875061	upstream gene variant	T/C	snv		9.2E-02	18
rs629301	CELSR2	0.851	0.120	1	109275684	3 prime UTR variant	G/T	snv		0.74	22
rs567798234	AMPD2	0.851	0.120	1	109625326	missense variant	C/T	snv	4.1E-06	7.0E-06	5
rs1860561	ATP2A2	0.851	0.080	12	110345436	intron variant	G/A	snv		0.19	5
rs6533530		0.851	0.120	4	110810780	intergenic variant	T/C	snv		0.47	16
rs9885413		0.925	0.040	5	110840429	intergenic variant	G/T	snv		0.19	2
rs671	ALDH2	0.529	0.840	12	111803962	missense variant	G/A	snv	1.9E-02	5.8E-03	116
rs737337	DOCK6	0.925	0.040	19	11236817	synonymous variant	T/C	snv	0.15	0.20	6
rs397507549	PTPN11	0.742	0.240	12	112489104	missense variant	C/A;G	snv			13
rs4506565	TCF7L2	0.790	0.280	10	112996282	intron variant	A/G;T	snv			22
rs1801252	ADRB1	0.724	0.320	10	114044277	missense variant	A/G	snv	0.15	0.17	17
rs1801253	ADRB1	0.683	0.440	10	114045297	missense variant	G/C	snv	0.74	0.69	34
rs749303395	AMPD1	0.882	0.040	1	114680329	missense variant	G/A;C	snv	8.0E-06; 4.0E-06		3
rs964184	ZPR1	0.716	0.440	11	116778201	3 prime UTR variant	G/C	snv		0.82	47
rs740363	HSPA12A	0.851	0.080	10	116816095	intron variant	G/A	snv		0.40	5
rs7115242	SIK3	0.851	0.120	11	117037567	intron variant	A/G;T	snv			16
rs198358	NPPA-AS1 ; CLCN6	0.925	0.040	1	11844019	3 prime UTR variant	T/C	snv		0.32	4
rs5068	NPPA ; NPPA-AS1 ; CLCN6	0.776	0.160	1	11845917	3 prime UTR variant	A/G;T	snv			13
rs111033560	PLN ; CEP85L	0.807	0.040	6	118559037	stop gained	T/G	snv	1.6E-05		9
rs2230345	GRK5	0.807	0.160	10	119326585	missense variant	A/T	snv	3.8E-02	9.0E-02	6
rs397516881	BAG3	0.827	0.120	10	119676917	missense variant	G/A	snv			7
rs1061622	TNFRSF1B	0.633	0.760	1	12192898	missense variant	T/G	snv	0.22	0.22	33
rs12369179	ZCCHC8	0.851	0.120	12	122479003	intron variant	C/T	snv		5.9E-02	16