DisGeNET - a database of gene-disease associations

List of associated variants

CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder), C1861861

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
rs699	AGT	0.501	0.800	1	230710048	missense variant	A/G	snv	0.55	0.58	134
rs1267969615	ACE	0.532	0.760	17	63490960	missense variant	T/C	snv	4.0E-06		100
rs121918312	BAG3	0.776	0.160	10	119672373	missense variant	C/A;T	snv			11
rs104894724	TNNI3	0.790	0.120	19	55154146	missense variant	G/A;C	snv	4.0E-06		8
rs397516354	TNNI3	0.790	0.120	19	55154094	missense variant	C/A;G;T	snv	4.0E-05		8
rs1114167361	FLNC	0.827	0.160	7	128845022	missense variant	C/T	snv			6
rs397516349	TNNI3	0.807	0.080	19	55154145	missense variant	C/T	snv	1.6E-05		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
rs199476408	MYPN	0.851	0.040	10	68165803	stop gained	C/G;T	snv	4.0E-06		4
rs61726467	DES	0.882	0.160	2	219421553	stop gained	G/A;T	snv			3
rs1131692185	FLNC	0.882	0.040	7	128845012	missense variant	GC/CT	mnv			3
rs879255639	FLNC	0.882	0.040	7	128848926	missense variant	C/T	snv			3
rs879255640	FLNC-AS1 ; FLNC	0.882	0.040	7	128853831	missense variant	A/T	snv			3
rs1204336259	DNAH8	0.925	0.040	6	38723373	missense variant	A/G	snv	4.1E-06		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
rs104894728	TNNI3	0.925	0.040	19	55151898	missense variant	T/C	snv			2
rs121917760	TNNI3	0.925	0.040	19	55154148	missense variant	A/G;T	snv			2
rs104894730	TNNI3	1.000	0.040	19	55154047	missense variant	T/C	snv			1
rs1114167340	TNNI3	1.000	0.040	19	55154200	missense variant	C/A	snv			1
rs121917761	TNNI3	1.000	0.040	19	55154068	missense variant	C/T	snv			1