DisGeNET - a database of gene-disease associations

List of associated variants

Congestive heart failure, C0018802

Source: ALL

Results per page

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
rs767312316	UTS2R	1.000	0.040	17	82375046	stop gained	C/A;G;T	snv	6.6E-05; 1.7E-05; 1.7E-05		1
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
rs766265889	TTN-AS1 ; TTN	0.827	0.240	2	178535508	stop gained	G/A;T	snv	8.0E-06; 4.0E-06		11
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
rs548787835	SQSTM1	1.000	0.040	5	179823911	missense variant	C/G;T	snv	1.2E-05; 1.6E-05		1
rs4822489	SPECC1L-ADORA2A ; ADORA2A ; ADORA2A-AS1	0.925	0.200	22	24437792	intron variant	T/G	snv		0.48	2
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
rs1222174664	SLCO6A1	0.827	0.280	5	102477801	missense variant	G/A	snv	8.0E-06	7.0E-06	5
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
rs762151808	SERPINA1	0.925	0.040	14	94378559	missense variant	A/C	snv	4.0E-06	7.0E-06	2
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
rs3212254	RIPK3 ; ADCY4	0.925	0.040	14	24336257	missense variant	G/A;T	snv	1.2E-05; 7.3E-02		2
rs3212247	RIPK3	0.925	0.040	14	24340589	upstream gene variant	A/G	snv		0.12	2
rs370579379	RBP4 ; FFAR4	0.827	0.160	10	93594018	missense variant	C/T	snv	4.0E-06	1.4E-05	6
rs13058338	RAC2	1.000	0.040	22	37236730	intron variant	T/A;G	snv			4