DisGeNET - a database of gene-disease associations

List of associated variants

Muscular Dystrophy, C0026850

Source: CLINVAR ×

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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
rs28936415	PMM2	0.752	0.320	16	8811153	missense variant	G/A	snv	4.1E-03	3.7E-03	22
rs80338800	LOC105370794 ; CAPN3	0.827	0.120	15	42387803	frameshift variant	A/-	delins			21
rs781565158	PYROXD1	0.851	0.120	12	21452130	missense variant	A/G	snv	4.7E-05	2.1E-05	21
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			11
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
rs757082154	TTN ; TTN-AS1	1.000	0.120	2	178527491	stop gained	G/A	snv	1.2E-05		8
rs1800553	ABCA4	0.742	0.240	1	94008251	missense variant	C/T	snv	4.7E-03	3.0E-03	7
rs886039785	DMD	0.925	0.120	X	31496876	stop gained	C/T	snv			7
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
rs1563083759	TNPO3	0.925	0.120	7	128957260	frameshift variant	G/-	del			6
rs1553521119	DYSF	0.925	0.120	2	71513892	frameshift variant	C/-	del			5
rs770905160	DYSF	0.882	0.120	2	71656236	stop gained	C/G;T	snv	1.2E-05		5
rs202247792	LAMA2	0.925	0.120	6	129486605	missense variant	T/C;G	snv	8.0E-06		5
rs59332535	LMNA	0.827	0.160	1	156134911	missense variant	G/A	snv			5
rs200198778	POMT2	0.827	0.160	14	77278764	missense variant	T/C	snv	5.6E-05	9.8E-05	5
rs1057518925	COL6A2	1.000	0.120	21	46114006	splice acceptor variant	A/G	snv			4
rs1553846331	DOK7	0.925	0.120	4	3473504	missense variant	C/T	snv			4
rs756015202	DOK7	0.925	0.120	4	3493047	missense variant	C/T	snv	5.5E-06		4
rs200916654	DYSF	0.925	0.120	2	71551635	missense variant	T/C	snv	2.9E-05		4
rs142336618	GMPPB	0.827	0.120	3	49723648	missense variant	C/G	snv	4.5E-06; 7.0E-04	5.3E-04	4
rs142908436	GMPPB	0.851	0.120	3	49722057	missense variant	G/A;T	snv	1.0E-04; 1.2E-05		4
rs58932704	LMNA	0.776	0.200	1	156136413	missense variant	C/T	snv			4