DisGeNET - a database of gene-disease associations

List of associated variants

Muscular Dystrophy, C0026850

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
rs1800553	ABCA4	0.742	0.240	1	94008251	missense variant	C/T	snv	4.7E-03	3.0E-03	17
rs28936415	PMM2	0.752	0.320	16	8811153	missense variant	G/A	snv	4.1E-03	3.7E-03	22
rs61672878	LMNA	0.776	0.200	1	156136094	missense variant	G/A;T	snv			11
rs58932704	LMNA	0.776	0.200	1	156136413	missense variant	C/T	snv			8
rs80338800	LOC105370794 ; CAPN3	0.827	0.120	15	42387803	frameshift variant	A/-	delins			21
rs58034145	LMNA	0.827	0.160	1	156134830	missense variant	A/C	snv			10
rs116840805	SSUH2 ; CAV3	0.827	0.160	3	8745725	missense variant	C/T	snv			6
rs142336618	GMPPB	0.827	0.120	3	49723648	missense variant	C/G	snv	4.5E-06; 7.0E-04	5.3E-04	5
rs200198778	POMT2	0.827	0.160	14	77278764	missense variant	T/C	snv	5.6E-05	9.8E-05	5
rs59332535	LMNA	0.827	0.160	1	156134911	missense variant	G/A	snv			5
rs60458016	LMNA	0.827	0.120	1	156136036	stop gained	G/A;T	snv			5
rs781565158	PYROXD1	0.851	0.120	12	21452130	missense variant	A/G	snv	4.7E-05	2.1E-05	22
rs778768583	CAPN3	0.851	0.120	15	42410958	missense variant	G/C	snv	8.0E-06		10
rs886042108	CAPN3	0.851	0.120	15	42409930	splice acceptor variant	G/C;T	snv			10
rs142908436	GMPPB	0.851	0.120	3	49722057	missense variant	G/A;T	snv	1.0E-04; 1.2E-05		4
rs199474724	LMNA	0.851	0.120	1	156134839	missense variant	G/A	snv			4
rs1565930588	HSPB8	0.882	0.160	12	119193787	frameshift variant	TACTCAACATTTGG/-	del			19
rs121908457	LOC101928005 ; MYOT	0.882	0.120	5	137870815	missense variant	C/T	snv			13
rs760768093	TTN-AS1 ; TTN	0.882	0.160	2	178533255	frameshift variant	C/-	delins	2.4E-05	1.4E-05	7
rs1555421871	CAPN3	0.882	0.120	15	42399617	frameshift variant	G/-	delins			6
rs770905160	DYSF	0.882	0.120	2	71656236	stop gained	C/G;T	snv	1.2E-05		5
rs121908110	FKRP	0.882	0.160	19	46756837	missense variant	A/G	snv	1.2E-04	2.1E-05	4
rs121908458	MYOT ; LOC101928005	0.882	0.120	5	137870830	missense variant	C/G;T	snv	3.6E-05		4
rs746438011	SYNE1	0.882	0.120	6	152430672	missense variant	A/G;T	snv	1.2E-05		4
rs121909518	FLNC-AS1 ; FLNC	0.882	0.120	7	128858475	stop gained	G/A	snv			3