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
rs964184	ZPR1	0.716	0.440	11	116778201	3 prime UTR variant	G/C	snv		0.82	47
rs7190256	ZFHX3	0.851	0.120	16	72963084	intron variant	C/T	snv		0.94	16
rs12369179	ZCCHC8	0.851	0.120	12	122479003	intron variant	C/T	snv		5.9E-02	16
rs76992529	TTR	0.653	0.560	18	31598655	missense variant	G/A	snv	1.1E-03	4.9E-03	36
rs121918090	TTR	0.790	0.240	18	31593026	missense variant	G/C	snv			8
rs121918080	TTR	0.827	0.240	18	31595128	missense variant	G/A;T	snv	2.4E-05		6
rs12564445	TNNT2	0.851	0.040	1	201376359	intron variant	G/A	snv		0.27	5
rs1061622	TNFRSF1B	0.633	0.760	1	12192898	missense variant	T/G	snv	0.22	0.22	33
rs8179090	TIMP2	0.752	0.280	17	78925807	upstream gene variant	C/G	snv		1.6E-02	12
rs4898	TIMP1 ; SYN1 ; MIR4769	0.672	0.520	X	47585586	synonymous variant	T/C	snv	0.46	0.46	25
rs4506565	TCF7L2	0.790	0.280	10	112996282	intron variant	A/G;T	snv			22
rs10401969	SUGP1	0.776	0.240	19	19296909	intron variant	T/C	snv		0.10	25
rs1799895	SOD3	0.683	0.360	4	24800212	missense variant	C/G	snv	2.3E-02	1.2E-02	26
rs1022113606	SOD3	0.732	0.280	4	24800161	missense variant	G/C	snv	1.6E-04	2.1E-05	17
rs7311358	SLCO1B3-SLCO1B7 ; SLCO1B3	0.827	0.160	12	20862826	missense variant	G/A	snv	0.81	0.72	6
rs4149056	SLCO1B1	0.633	0.480	12	21178615	missense variant	T/C	snv	0.13	0.12	45
rs13114738	SLC39A8	0.851	0.120	4	102363708	intron variant	C/A;T	snv			16
rs6759518	SLC30A3	0.851	0.120	2	27263727	intron variant	G/C	snv		5.5E-02	16
rs7115242	SIK3	0.851	0.120	11	117037567	intron variant	A/G;T	snv			16
rs762151808	SERPINA1	0.925	0.040	14	94378559	missense variant	A/C	snv	4.0E-06	7.0E-06	2
rs7632505	SEMA5B	0.827	0.120	3	123019460	intron variant	A/G	snv		0.34	17
rs7626962	SCN5A	0.790	0.080	3	38579416	missense variant	G/A;T	snv	1.6E-05; 5.9E-03		10
rs1805126	SCN5A	0.925	0.040	3	38550915	synonymous variant	A/G	snv	0.39	0.44	2
rs3766871	RYR2	0.790	0.240	1	237614784	missense variant	G/A;T	snv	4.0E-02		9
rs121918598	RYR2	0.851	0.080	1	237648523	missense variant	G/A;C	snv			4