DisGeNET - a database of gene-disease associations

List of associated variants

Restrictive cardiomyopathy, C0007196

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
rs1294950721	JAG1	0.807	0.360	20	10645355	splice donor variant	C/A;T	snv		7.0E-06	27
rs121918312	BAG3	0.776	0.160	10	119672373	missense variant	C/A;T	snv			11
rs369634007	TMEM87B	0.882	0.080	2	112098688	missense variant	A/G	snv	1.6E-05	2.1E-05	10
rs104894724	TNNI3	0.790	0.120	19	55154146	missense variant	G/A;C	snv	4.0E-06		8
rs1114167361	FLNC	0.827	0.160	7	128845022	missense variant	C/T	snv			6
rs267607124	TNNC1	0.807	0.080	3	52451410	missense variant	G/A;C;T	snv	4.0E-05; 4.0E-06; 1.3E-04		6
rs727503504	TNNI3	0.807	0.080	19	55154071	missense variant	G/A;C	snv			6
rs104894729	TNNI3	0.827	0.080	19	55151892	missense variant	C/A;G;T	snv			5
rs727503503	TNNI3	0.827	0.120	19	55154070	missense variant	C/T	snv			5
rs1114167341	CRYAB	0.882	0.040	11	111908966	missense variant	T/C	snv			4
rs727503260	MYH7	0.851	0.080	14	23425403	missense variant	C/G;T	snv			4
rs199476408	MYPN	0.851	0.040	10	68165803	stop gained	C/G;T	snv	4.0E-06		4
rs267607125	TNNC1 ; NISCH	0.851	0.080	3	52453993	missense variant	G/A	snv		7.0E-06	4
rs200754249	TNNT2	0.851	0.080	1	201368212	missense variant	G/A;T	snv	4.5E-04; 4.0E-06		4
rs1131692185	FLNC	0.882	0.040	7	128845012	missense variant	GC/CT	mnv			3
rs727503269	MYH7	0.882	0.040	14	23429329	missense variant	T/C	snv			3
rs1204336259	DNAH8	0.925	0.040	6	38723373	missense variant	A/G	snv	4.1E-06		2
rs397516153	MYH7	0.925	0.040	14	23424935	missense variant	G/A;T	snv			2
rs34677717	PINK1	0.925	0.040	1	20638080	missense variant	C/T	snv	1.4E-04	2.0E-04	2
rs574304021	PRRT2 ; LOC112268170	0.925	0.040	16	29813487	missense variant	C/A;T	snv	4.0E-06; 2.4E-05		2
rs770640091	TNNI3	0.925	0.040	19	55157297	missense variant	G/A	snv	4.1E-06		2
rs141754300	TNNT2	0.925	0.040	1	201364349	missense variant	C/A	snv	8.0E-06		2
rs727503513	TNNT2	0.925	0.080	1	201365292	missense variant	G/A	snv			2
rs970498944	TNNT2	0.925	0.040	1	201373235	missense variant	A/G	snv		7.0E-06	2
rs1554401403	FLNC-AS1 ; FLNC	1.000	0.040	7	128854577	missense variant	C/T	snv			1