DisGeNET - a database of gene-disease associations

List of associated variants

Muscular Dystrophies, Limb-Girdle, C0686353

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
rs28937900	FKRP	0.752	0.160	19	46756276	missense variant	C/A;T	snv	1.0E-03		37
rs104894681	FKRP	0.776	0.200	19	46756793	missense variant	C/T	snv	9.0E-06		10
rs757082154	TTN ; TTN-AS1	1.000	0.120	2	178527491	stop gained	G/A	snv	1.2E-05		9
rs72546668	SSUH2 ; CAV3	0.807	0.200	3	8745644	missense variant	C/A;T	snv	4.0E-06; 2.6E-03		8
rs116840778	SSUH2 ; CAV3	0.882	0.200	3	8733956	missense variant	G/A;C	snv			7
rs760768093	TTN-AS1 ; TTN	0.882	0.160	2	178533255	frameshift variant	C/-	delins	2.4E-05	1.4E-05	7
rs543163491	FKRP	0.827	0.160	19	46755995	missense variant	A/G;T	snv	8.2E-05; 6.8E-06		6
rs116840805	SSUH2 ; CAV3	0.827	0.160	3	8745725	missense variant	C/T	snv			6
rs869025337	BVES	0.925	0.120	6	105124593	missense variant	G/A;C	snv	4.0E-06		5
rs143570936	SGCA	0.925	0.200	17	50169246	missense variant	G/A	snv	1.1E-04	1.8E-04	5
rs111033570	ASTN2 ; TRIM32	0.925	0.160	9	116699201	missense variant	G/A	snv	8.0E-06		4
rs58327533	LMNA	1.000	0.120	1	156114991	missense variant	C/G;T	snv			4
rs199806879	CAPN3	0.925	0.120	15	42408227	missense variant	C/T	snv	4.4E-05	3.5E-05	3
rs750083132	CAPN3	1.000	0.120	15	42410633	missense variant	A/G	snv	8.0E-06		2
rs116840799	CAV3 ; SSUH2	1.000	0.040	3	8745599	missense variant	C/G	snv			2
rs387907150	DNAJB6	1.000		7	157367402	missense variant	T/A;C	snv			2
rs121908960	DYSF	1.000	0.120	2	71553131	missense variant	G/A;T	snv	5.6E-05		2
rs121908961	DYSF	1.000	0.120	2	71667376	missense variant	A/G	snv			2
rs1562449164	LAMA2	1.000	0.120	6	129314653	splice acceptor variant	A/C	snv			2
rs104894422	LOC107984585 ; SGCG	1.000	0.200	13	23324513	missense variant	G/A	snv	4.0E-06		2
rs119462982	POMT1	1.000	0.120	9	131509801	missense variant	G/C	snv	8.0E-06		2
rs903823830	SGCA ; LOC105371818	1.000	0.200	17	50167422	missense variant	T/C	snv			2
rs28936383	SGCB	1.000	0.200	4	52028899	missense variant	G/C	snv		1.4E-05	2
rs267607045	SGCD	1.000	0.200	5	156594940	missense variant	G/C	snv			2
rs397517921	SGCD			5	156594936	frameshift variant	A/-	delins			2