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
rs10889348	DOCK7			1	62612551	intron variant	A/T	snv		0.32	3
rs10889353	DOCK7			1	62652525	intron variant	A/C;T	snv			4
rs10900522	NUCKS1			1	205714939	3 prime UTR variant	T/C	snv		0.21	4
rs11207995	DOCK7			1	62583880	intron variant	A/C;G	snv			3
rs11340914	TCEA3			1	23421504	intron variant	AA/-;A;AAA	delins		0.65	2
rs1167998	DOCK7			1	62465961	intron variant	C/A	snv		0.57	4
rs1168013	DOCK7	1.000	0.120	1	62531167	intron variant	C/G;T	snv			3
rs12042319	DOCK7	1.000	0.040	1	62584148	3 prime UTR variant	G/A	snv		0.36	3
rs12047226	DOCK7			1	62639867	intron variant	T/A;C	snv			3
rs12130333		1.000	0.080	1	62726106	regulatory region variant	C/T	snv		0.16	2
rs1748195	DOCK7	0.851	0.120	1	62583922	intron variant	C/G;T	snv			4
rs2131925	DOCK7			1	62560271	intron variant	G/T	snv		0.57	3
rs2642438	MTARC1			1	220796686	missense variant	A/G	snv	0.75	0.78	6
rs3850634	DOCK7			1	62584927	intron variant	T/G	snv	0.33	0.34	3
rs629301	CELSR2	0.851	0.120	1	109275684	3 prime UTR variant	G/T	snv		0.74	19
rs6587980	DOCK7			1	62625187	synonymous variant	C/T	snv		0.40	3
rs995000	DOCK7			1	62641855	intron variant	C/T	snv		0.34	3
rs9988450	DOCK7			1	62458777	non coding transcript exon variant	C/T	snv		0.39	3
rs10185855	TBC1D8			2	101025798	intron variant	A/G	snv		0.35	4
rs1041968	APOB			2	21009932	synonymous variant	G/A	snv	0.39	0.38	4
rs1042034	APOB	0.851	0.240	2	21002409	missense variant	C/T	snv	0.70	0.78	6
rs1260326	GCKR	0.645	0.600	2	27508073	missense variant	T/C;G	snv	0.63; 4.0E-06	0.68	55
rs1260333		0.882	0.160	2	27525757	downstream gene variant	A/G	snv		0.58	2
rs13392272				2	20994618	downstream gene variant	C/T	snv		0.37	4
rs13399758	CAD			2	27232858	intron variant	T/C	snv		0.20	2