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
rs964184	ZPR1	0.716	0.440	11	116778201	3 prime UTR variant	G/C	snv		0.82	47
rs7267618	ZNF831			20	59131469	intron variant	T/G	snv		0.11	1
rs36174733	ZNF268			12	133204577	3 prime UTR variant	A/G	snv	0.17	0.14	1
rs35783704	ZFPM2			8	104954030	intron variant	G/A	snv		7.2E-02	2
rs73033340	ZFAND2A			7	1156056	intron variant	A/G	snv		2.7E-02	3
rs71636784	ZDHHC18	1.000	0.040	1	26842709	intron variant	T/G	snv		0.12	4
rs13285624	ZCCHC7			9	37129499	intron variant	T/G	snv		0.33	1
rs11556924	ZC3HC1	0.752	0.240	7	130023656	missense variant	C/A;T	snv	4.0E-06; 0.28		21
rs7232858	YES1			18	773091	intron variant	T/A;C	snv			1
rs315145	YEATS4			12	69400306	upstream gene variant	C/G;T	snv			1
rs3809060	WT1-AS ; WT1			11	32437261	intron variant	G/T	snv		0.49	2
rs1800389	WRN			8	31067041	synonymous variant	C/T	snv	0.71	0.67	1
rs3790604	WNT2B			1	112504257	intron variant	C/A	snv		7.8E-02	5
rs1063857	VWF			12	6044348	synonymous variant	A/G	snv	0.31	0.40	4
rs216293	VWF			12	6044493	intron variant	G/C;T	snv	2.7E-04; 0.59		1
rs4764478	VWF			12	5968959	intron variant	T/A	snv		0.22	1
rs2359612	VKORC1	0.851	0.120	16	31092475	intron variant	A/G	snv		0.66	7
rs2010963	VEGFA	0.542	0.840	6	43770613	5 prime UTR variant	C/G	snv		0.68	82
rs1544410	VDR	0.542	0.760	12	47846052	intron variant	C/A;G;T	snv			78
rs2239179	VDR	0.790	0.200	12	47863983	intron variant	T/C	snv		0.39	9
rs2248098	VDR	0.925	0.120	12	47859573	intron variant	A/G;T	snv			4
rs3847987	VDR	0.882	0.160	12	47844285	3 prime UTR variant	C/A	snv		0.12	4
rs2189480	VDR	1.000	0.040	12	47870045	intron variant	G/T	snv		0.36	2
rs117913411	VDR			12	47860570	intron variant	T/A	snv		3.2E-02	1
rs4746172	VCL			10	74096084	intron variant	C/T	snv		0.73	3