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
rs1250563	ZMIZ1	0.724	0.240	10	79287626	intron variant	G/C	snv		0.24	14
rs1250567	ZMIZ1	0.776	0.080	10	79286508	intron variant	T/C	snv		0.56	10
rs1250573	ZMIZ1	0.827	0.120	10	79282718	intron variant	G/A	snv		0.23	5
rs1250550	ZMIZ1	0.851	0.240	10	79300560	intron variant	C/A	snv		0.27	5
rs1250546	ZMIZ1	0.925	0.080	10	79272775	intron variant	A/G	snv		0.36	3
rs1250544	ZMIZ1	0.882	0.080	10	79273128	intron variant	G/A	snv		0.32	3
rs703978	ZMIZ1	1.000	0.080	10	79184390	intron variant	C/G;T	snv		0.68	3
rs7916441	ZMIZ1			10	79165820	intron variant	G/C	snv		0.39	2
rs779933	ZMIZ1			10	79158760	intron variant	G/A	snv		0.36	2
rs11593576	ZMIZ1	0.925	0.040	10	79256139	intron variant	C/T	snv		0.29	2
rs780159	ZMIZ1			10	79147390	intron variant	A/C;G	snv			2
rs1658319	ZMIZ1			10	79165257	intron variant	T/C	snv		0.81	1
rs1815314	ZMIZ1			10	79169036	intron variant	G/A;C;T	snv			1
rs780151	ZMIZ1			10	79171724	intron variant	G/A	snv		0.32	1
rs1250552	ZMIZ1	0.882	0.200	10	79298270	intron variant	A/C;G	snv			1
rs1250557	ZMIZ1	1.000	0.080	10	79306017	intron variant	G/T	snv		0.63	1
rs1250569	ZMIZ1	0.925	0.040	10	79285450	intron variant	T/C	snv	0.44	0.51	1
rs12571751	ZMIZ1	0.925	0.120	10	79182874	intron variant	A/G	snv		0.46	1
rs753270	ZMIZ1	1.000	0.080	10	79205218	intron variant	T/A;C	snv			1
rs34204798	ZMIZ1	1.000	0.080	10	79191374	intron variant	G/-;GG;GGG;GGGG	delins			1
rs703980	ZMIZ1	1.000	0.080	10	79184084	intron variant	G/A	snv		0.39	1
rs703972	ZMIZ1	1.000	0.080	10	79193069	intron variant	G/A;C	snv			1
rs1250566	ZMIZ1			10	79286696	intron variant	G/A	snv		0.24	1
rs1782645	ZMIZ1	1.000	0.080	10	79288854	intron variant	C/A;T	snv			1
rs1250542	ZMIZ1	1.000	0.080	10	79274913	intron variant	G/A	snv		0.32	1