DisGeNET - a database of gene-disease associations

Source: GWASCAT ×

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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
rs1036332	LINC01221			1	199043349	intron variant	A/C	snv		0.70	2
rs111759324				1	101186966	upstream gene variant	C/T	snv		0.11	2
rs11204682	ENSA			1	150623061	intron variant	G/A;T	snv			4
rs114269697	JAK1	1.000	0.040	1	64848529	intron variant	C/A	snv		7.3E-03	3
rs12239046	NLRP3			1	247438293	intron variant	T/C	snv		0.58	7
rs12408934	JAK1			1	64957764	intron variant	G/A	snv		6.1E-02	2
rs12752838				1	8853597	upstream gene variant	A/G	snv		0.54	4
rs1754541	LOC101928334			1	101160327	intergenic variant	A/G	snv		0.25	2
rs17592479	COQ8A			1	226986191	intron variant	T/A	snv		0.41	4
rs201950044				1	161639782	intergenic variant	G/T	snv			5
rs2072735	SPSB1			1	9295413	intron variant	A/C	snv		0.76	2
rs2147904	HIVEP3			1	41905743	intron variant	T/C	snv		0.50	2
rs2208568	LOC105373215 ; LINC02768			1	235926855	intergenic variant	T/A;C;G	snv			5
rs2296618	PTPRC			1	198697103	intron variant	A/G	snv		0.21	2
rs2476601	AP4B1-AS1 ; PTPN22	0.498	0.800	1	113834946	missense variant	A/G	snv	0.93	0.93	34
rs2814778	CADM3-AS1 ; ACKR1	0.763	0.360	1	159204893	5 prime UTR variant	T/C	snv		0.25	11
rs301807	RERE-AS1 ; RERE	0.925	0.080	1	8424763	intron variant	A/G;T	snv			4
rs3123543	ATF3			1	212617344	intron variant	T/A;C	snv			13
rs3218192	E2F2			1	23514878	intron variant	G/T	snv		0.40	2
rs34293785				1	65671509	intergenic variant	T/C	snv			4
rs34599082	ACKR1 ; CADM3-AS1			1	159205704	missense variant	C/T	snv	1.1E-02	9.9E-03	7
rs34645101	LOC107985203 ; MCL1			1	150578448	synonymous variant	T/C	snv	9.0E-03	7.9E-03	2
rs35249183				1	12039288	upstream gene variant	A/G	snv		6.4E-02	2
rs3917914	CSF3R			1	36482287	intron variant	G/A;T	snv			5
rs3917932	CSF3R			1	36478315	intron variant	C/G	snv		0.59	5