DisGeNET - a database of gene-disease associations

List of associated variants

Cardiomyopathy, Familial Idiopathic, C1449563

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
rs143268013	CAVIN4	1.000	0.040	9	100578527	missense variant	C/G	snv	1.2E-04	3.4E-04	1
rs751703046	CAVIN4	1.000	0.040	9	100586276	missense variant	G/C	snv	9.9E-05	4.9E-05	1
rs777846521	FHL2	1.000	0.040	2	105386375	missense variant	C/G;T	snv	8.0E-06; 3.2E-05		1
rs9034	NAMPT	0.827	0.200	7	106249610	3 prime UTR variant	A/G;T	snv			5
rs61330082	NAMPT	0.732	0.320	7	106286419	upstream gene variant	G/A	snv		0.22	13
rs397516607	RBM20	0.925	0.040	10	110821356	missense variant	G/A	snv			4
rs794729157	RBM20	1.000	0.040	10	110821710	stop gained	G/T	snv			1
rs141638421	CRYAB	0.882	0.080	11	111908822	missense variant	C/T	snv	7.2E-05	4.9E-05	4
rs1846594		0.925	0.120	3	113197356	intergenic variant	G/A;T	snv			2
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
rs4986791	TLR4	0.456	0.840	9	117713324	missense variant	C/T	snv	5.7E-02	4.9E-02	182
rs74676849		1.000	0.040	7	11849866	intergenic variant	A/G	snv		2.6E-02	1
rs111033559	PLN ; CEP85L	0.925	0.040	6	118558946	missense variant	C/T	snv			4
rs761056344	PLN ; CEP85L	0.925	0.080	6	118558994	missense variant	C/G;T	snv	4.0E-06; 3.2E-05		3
rs2234962	BAG3	1.000	0.040	10	119670121	missense variant	T/C	snv	0.17	0.15	3
rs397516881	BAG3	0.827	0.120	10	119676917	missense variant	G/A	snv			7
rs397514507	BAG3	0.925	0.040	10	119676939	missense variant	T/C	snv			2
rs387906876	BAG3	0.925	0.040	10	119676984	missense variant	G/A	snv			2
rs4758680	LRRC43	0.763	0.320	12	122170805	intron variant	T/A;G	snv			9
rs7977932	LRRC43 ; IL31	0.763	0.320	12	122172836	intron variant	C/G;T	snv			10
rs150035515	EDN1	1.000	0.040	6	12292366	synonymous variant	G/A;T	snv	7.0E-04; 5.2E-05		1
rs149399492	EDN1	1.000	0.040	6	12292395	missense variant	C/A;G;T	snv	5.6E-05; 2.0E-05; 3.1E-04		1
rs757677006	LMOD2	1.000	0.040	7	123662779	stop gained	G/A;T	snv	4.0E-06; 4.0E-06		1
rs1175271580	LMOD2	1.000	0.040	7	123662780	stop gained	G/A;T	snv			1