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	Num. diseases
rs1060502615	DMD	1.000	0.040	X	32454659	splice region variant	T/A	snv		1
rs1060502620	DMD	1.000	0.040	X	31932180	frameshift variant	T/-	delins		1
rs1060502626	DMD	1.000	0.040	X	31147274	splice donor variant	C/T	snv		1
rs1060502629	DMD	1.000	0.040	X	32573796	stop gained	C/T	snv		1
rs1060502639	DMD	1.000	0.040	X	32485057	stop gained	G/A;C;T	snv	5.5E-06; 1.1E-05	1
rs1060502659	DMD	1.000	0.040	X	31875217	frameshift variant	GT/-	del		1
rs1060502661	DMD	1.000	0.040	X	32545250	stop gained	G/A	snv		1
rs128625226	DMD	1.000	0.040	X	32454796	stop gained	C/A	snv		1
rs128625227	DMD	1.000	0.040	X	32484931	stop gained	C/A;T	snv		1
rs128625228	DMD	1.000	0.040	X	32345978	stop gained	G/A	snv		1
rs128625229	DMD	1.000	0.040	X	31444621	stop gained	G/A	snv		1
rs128625230	DMD	1.000	0.040	X	31875331	stop gained	G/A	snv		1
rs128626231	DMD	1.000	0.040	X	32849753	missense variant	A/C	snv		1
rs128626233	DMD	1.000	0.040	X	32849736	stop gained	G/A	snv		1
rs128626234	DMD	1.000	0.040	X	32844794	stop gained	G/A	snv		1
rs128626238	DMD	1.000	0.040	X	32699219	stop gained	G/A;C	snv	5.5E-06	1
rs128626239	DMD	1.000	0.040	X	32699195	stop gained	C/A	snv		1
rs128626242	DMD	1.000	0.040	X	32565742	stop gained	C/G;T	snv	5.5E-06	1
rs128626243	DMD	1.000	0.040	X	32501827	stop gained	T/A	snv		1
rs128626244	DMD	1.000	0.040	X	32501818	missense variant	T/C	snv		1
rs128626246	DMD	1.000	0.040	X	32464674	stop gained	C/T	snv		1
rs128626247	DMD	1.000	0.040	X	32411772	stop gained	G/A;C	snv		1
rs128626249	DMD	1.000	0.040	X	32342123	stop gained	G/A	snv	5.5E-06	1
rs128626250	DMD	1.000	0.040	X	32217062	stop gained	G/A;C	snv		1
rs128626252	DMD	1.000	0.040	X	31929718	stop gained	G/A	snv		1