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
rs6015450	ZNF831			20	59176062	intron variant	A/G	snv		0.14	7
rs16982520	ZNF831	1.000	0.040	20	59183665	intron variant	A/G	snv		0.14	4
rs16964543	ZNF536	1.000	0.080	19	30694303	intron variant	T/C	snv		0.32	2
rs10948071	ZNF318			6	43312975	intron variant	C/T	snv		0.46	4
rs1563788	ZNF318			6	43340625	intron variant	C/T	snv		0.42	4
rs2106261	ZFHX3	0.763	0.160	16	73017721	intron variant	C/G;T	snv			11
rs1372662	ZFAT			8	134554803	intron variant	G/C	snv		0.34	1
rs7827545	ZFAT			8	134554324	intron variant	C/A;T	snv			1
rs11784910	ZDHHC2			8	17217746	intron variant	A/T	snv		3.6E-02	1
rs11556924	ZC3HC1	0.752	0.240	7	130023656	missense variant	C/A;T	snv	4.0E-06; 0.28		21
rs1464890	ZC3HC1			7	130024472	missense variant	T/C	snv	0.54	0.44	1
rs8098380	YES1			18	721563	downstream gene variant	A/C	snv		0.33	4
rs6506537	YES1			18	794272	intron variant	T/C	snv		0.30	1
rs17118	XYLB	0.925	0.120	3	38362981	missense variant	C/A;T	snv	0.29		4
rs6452524	XRCC4			5	83137962	intron variant	G/A	snv		0.49	1
rs6887846	XRCC4			5	83140542	intron variant	G/A	snv		0.49	1
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs45547640	XDH	0.925	0.040	2	31346794	missense variant	T/G	snv	2.0E-03	6.5E-04	3
rs2073316	XDH			2	31388163	intron variant	G/A	snv		0.42	2
rs1042039	XDH			2	31335440	3 prime UTR variant	T/C	snv		0.41	1
rs1054889	XDH			2	31334442	3 prime UTR variant	G/A	snv		0.40	1
rs11904439	XDH			2	31392034	intron variant	A/G	snv		3.4E-02	1
rs148756340	XDH			2	31384409	intron variant	A/G	snv		1.1E-02	1
rs206811	XDH			2	31414049	intron variant	A/G	snv		0.65	1
rs206860	XDH			2	31399938	intron variant	G/A;C	snv			1