DisGeNET - a database of gene-disease associations

List of associated variants

Muscular Dystrophy, C0026850

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
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
rs121908110	FKRP	0.882	0.160	19	46756837	missense variant	A/G	snv	1.2E-04	2.1E-05	4
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
rs121908458	MYOT ; LOC101928005	0.882	0.120	5	137870830	missense variant	C/G;T	snv	3.6E-05		4
rs549794342	NEB ; RIF1	0.925	0.120	2	151501423	stop gained	G/A	snv	2.7E-04	3.0E-04	4
rs746438011	SYNE1	0.882	0.120	6	152430672	missense variant	A/G;T	snv	1.2E-05		4
rs368970223	ANO5	0.882	0.160	11	22255403	stop gained	C/T	snv	1.6E-05	4.2E-05	3
rs367543077	B3GALNT2 ; TBCE	0.882	0.120	1	235450286	stop gained	G/A	snv			3
rs121909518	FLNC-AS1 ; FLNC	0.882	0.120	7	128858475	stop gained	G/A	snv			3
rs28933693	SGCA ; LOC105371818	0.882	0.200	17	50167653	missense variant	C/T	snv	4.6E-04	4.5E-04	3
rs1556962271	DMD	0.925	0.120	X	31875197	frameshift variant	-/AATG	delins			2
rs1557396600	DMD	0.925	0.120	X	32518006	splice donor variant	A/C	snv			2
rs1553555585	DYSF	0.925	0.120	2	71570335	splice donor variant	G/T	snv			2
rs267607576	LMNA	0.925	0.160	1	156136219	missense variant	G/A;C	snv	1.2E-05		2
rs267607634	LMNA	0.925	0.120	1	156136045	missense variant	G/A;C	snv			2
rs57207746	LMNA	0.925	0.120	1	156134860	missense variant	G/A	snv			2
rs387907298	SGCA ; LOC105371818	0.925	0.200	17	50168562	stop gained	C/T	snv	5.7E-06		2
rs548397345	SMCHD1	0.925	0.120	18	2724901	missense variant	G/A;C;T	snv	4.9E-06; 4.9E-06; 4.4E-05		2
rs397517497	TTN	1.000	0.120	2	178790707	splice donor variant	C/T	snv	4.8E-05	5.6E-05	2
rs975757101	ANO5	1.000	0.120	11	22226034	synonymous variant	G/A	snv			1
rs1557058294	DMD	1.000	0.120	X	32823294	splice donor variant	C/T	snv			1