DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Gene: DMD ×

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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
rs201217593	DMD	0.790	0.200	X	31177947	stop gained	C/T	snv	2.2E-05	2.9E-05	8
rs769658853	DMD	1.000	0.200	X	32697928	missense variant	T/C	snv			1
rs769985775	DMD	0.851	0.160	X	32448630	synonymous variant	T/C	snv	5.7E-06	9.5E-06	6
rs104894787	DMD	0.882	0.160	X	31178784	stop gained	G/A	snv			3
rs128627256	DMD	0.882	0.160	X	31478330	stop gained	G/A	snv			3
rs373286166	DMD	0.882	0.160	X	32573529	splice donor variant	C/T	snv	1.6E-05	2.8E-05	3
rs398122853	DMD	0.882	0.160	X	33211304	stop gained	C/T	snv			3
rs398123832	DMD	0.882	0.160	X	31178721	stop gained	G/A	snv			3
rs398123909	DMD	0.882	0.160	X	32472310	splice acceptor variant	C/A;T	snv			3
rs398123929	DMD	0.882	0.160	X	32468509	stop gained	G/A	snv			3
rs398123935	DMD	0.882	0.160	X	32463576	stop gained	G/A	snv			3
rs794726993	DMD	0.882	0.160	X	32645020	stop gained	G/A;C	snv			3
rs104894790	DMD	0.925	0.160	X	31178751	stop gained	G/A	snv			2
rs128626232	DMD	0.925	0.160	X	32545310	stop gained	G/A;C	snv	1.1E-05		2
rs128626235	DMD	0.925	0.160	X	32816565	stop gained	G/A;T	snv	5.5E-06		2
rs128626241	DMD	0.925	0.160	X	32595870	stop gained	G/A	snv			2
rs128626245	DMD	0.925	0.160	X	32468539	stop gained	G/A	snv			2
rs128626248	DMD	0.925	0.160	X	32389605	stop gained	G/A	snv			2
rs128626251	DMD	0.925	0.160	X	32216981	stop gained	G/A	snv			2
rs128626254	DMD	0.925	0.160	X	31323625	stop gained	G/A;T	snv	1.1E-05		2
rs146071084	DMD	0.925	0.160	X	32454660	splice donor variant	A/C;T	snv			2
rs146880270	DMD	0.925	0.160	X	32438312	stop gained	C/A;T	snv	5.5E-06		2
rs1556789913	DMD	0.925	0.160	X	31657989	splice donor variant	C/T	snv			2
rs1569526579	DMD	0.925	0.160	X	32809612	splice acceptor variant	C/G	snv			2
rs1569528101	DMD	0.925	0.160	X	32816514	inframe deletion	GTG/-	delins			2