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
rs1556425596	COL6A1	0.752	0.240	21	45989967	intron variant	C/T	snv			37
rs386834236	GAA	0.882	0.120	17	80104542	intron variant	T/G	snv	3.4E-03	3.8E-03	6
rs4363657	SLCO1B1			12	21215788	intron variant	T/C	snv		0.18	5
rs149104283	SLCO1B3-SLCO1B7	0.882	0.040	12	20930928	intron variant	C/G;T	snv			4
rs1337512	EYS			6	64483927	intron variant	T/G	snv		0.31	1
rs140854723	EVC2			4	5634585	intron variant	G/A;T	snv			1
rs33428	ZNF536			19	30446936	intron variant	A/G	snv		0.71	1
rs3857532	EYS			6	64523772	intron variant	G/A	snv		0.42	1
rs4693075	COQ2			4	83271015	intron variant	G/A;C;T	snv			1
rs61865606	LOC105378568			10	132440647	intron variant	T/C;G	snv			1
rs6925743	PPP1R14C			6	150170920	intron variant	T/A	snv		0.33	1
rs73089338	CDCP1			3	45114350	intron variant	T/C	snv		5.5E-02	1
rs9342288	EYS			6	64477153	intron variant	G/A	snv		0.31	1
rs9806699	C15orf48 ; LOC105376714			15	45448194	intron variant	G/A	snv		0.31	1
rs10871700				18	72302261	intergenic variant	A/G	snv		0.72	1
rs10872257				6	122969896	intergenic variant	C/T	snv		0.44	1
rs11780883				8	83834281	intergenic variant	G/A;T	snv		0.43	1
rs28447350				13	64923076	intergenic variant	G/A	snv			1
rs543860009	TTN-AS1 ; TTN	0.742	0.320	2	178589003	stop gained	G/A;T	snv			33
rs1555377415	IRF2BPL ; LOC107984638	0.827	0.200	14	77027274	stop gained	G/C	snv			18
rs1815739	ACTN3	0.763	0.240	11	66560624	stop gained	C/T	snv		0.37	17
rs912001256	SCN4A	0.851	0.240	17	63947062	stop gained	G/A	snv			17
rs60682848	LMNA	0.790	0.200	1	156134838	stop gained	C/T	snv		7.0E-06	11
rs757082154	TTN ; TTN-AS1	1.000	0.120	2	178527491	stop gained	G/A	snv	1.2E-05		9
rs55960271	CLCN1	0.882	0.120	7	143351678	stop gained	C/A;T	snv	4.0E-06; 2.9E-03		5