DisGeNET - a database of gene-disease associations

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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
rs1057518834	DMD			X	32849737	frameshift variant	C/-	delins			9
rs1057518962	DMD			X	32573812	stop gained	C/A;G;T	snv	5.5E-06; 5.5E-06		6
rs1557315928	DMD			X	32380517	stop gained	C/T	snv			4
rs886043676	DMD			X	31178766	frameshift variant	G/-	del			3
rs1048379601	DMD			X	31773986	missense variant	T/C	snv		1.9E-05	2
rs1556880327	DMD			X	31774182	frameshift variant	-/T	delins			2
rs104894788	DMD	1.000		X	31180437	missense variant	C/T	snv			1
rs1057516028	DMD			X	32287680	stop gained	G/A	snv			1
rs1057518866	DMD			X	32343174	stop gained	A/C	snv			1
rs1114167437	DMD			X	31178681	frameshift variant	T/-	del			1
rs1114167439	DMD			X	32438240	splice donor variant	C/-	delins			1
rs1201177282	DMD			X	31172390	missense variant	T/C	snv	5.5E-06	9.4E-06	1
rs1213308971	DMD			X	31348599	missense variant	T/A	snv	5.5E-06		1
rs128626240	DMD	1.000		X	32614347	stop gained	C/A	snv			1
rs1379871	DMD			X	31836665	intron variant	G/A;C;T	snv			1
rs1427938321	DMD			X	32365095	missense variant	T/A	snv	5.5E-06		1
rs1556980528	DMD			X	32738791	intron variant	T/C	snv			1
rs6631478	DMD			X	32074263	intron variant	T/C	snv		0.26	1
rs73460075	DMD			X	32265375	intron variant	G/C	snv		5.0E-02	1
rs757592525	DMD			X	31478270	missense variant	A/G	snv	5.5E-06		1
rs794729002	DMD			X	31223109	missense variant	T/C	snv			1
rs876657777	DMD			X	32644215	missense variant	T/A	snv			1
rs886044916	DMD			X	31209534	missense variant	T/C	snv			1
rs104894797	DMD	1.000	0.040	X	31206663	stop gained	G/A	snv			1
rs1057522454	DMD	1.000	0.040	X	32645107	stop gained	C/A;T	snv	5.5E-06		1