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 GENOME	Num. diseases
rs11207997	DOCK7 ; ANGPTL3			1	62596235	intron variant	C/T	snv	0.39	6
rs112259268				17	43797377	downstream gene variant	C/A	snv	1.9E-02	6
rs1128249	COBLL1	1.000	0.080	2	164672114	intron variant	G/C;T	snv		10
rs112875651				8	125494452	intron variant	G/A	snv	0.31	7
rs1129555	GPAM			10	112150963	3 prime UTR variant	A/G	snv	0.71	5
rs114165349	LOC101928728 ; ARID1A			1	26695422	intron variant	G/C	snv	1.7E-02	5
rs11465759	IL23R ; C1orf141			1	67166721	intron variant	T/G	snv	2.4E-02	4
rs115485095	CYP21A2 ; EHMT2			6	31888293	intron variant	G/A	snv		3
rs11568746	TGFBR1			9	99105926	intron variant	C/G	snv	2.1E-05	6
rs11569302	CD40			20	46118465	intron variant	C/G;T	snv		4
rs11571151	PGR-AS1 ; PGR			11	101127486	missense variant	C/G;T	snv		6
rs11574728	CD36			7	80676025	intron variant	G/A	snv	7.5E-03	3
rs115845232	LOC112267902 ; HLA-B			6	31304484	intron variant	C/T	snv		3
rs116477171	CYP21A2 ; C2			6	31918153	intron variant	C/G;T	snv		3
rs11652146	ZNF652			17	49345001	intron variant	G/A;C	snv		4
rs11668477		0.925	0.080	19	11084354	downstream gene variant	A/G	snv	0.34	7
rs1167998	DOCK7			1	62465961	intron variant	C/A	snv	0.57	6
rs1168013	DOCK7	1.000	0.120	1	62531167	intron variant	C/G;T	snv		6
rs11828157	MMP13			11	102947395	intron variant	G/A	snv	4.7E-02	5
rs11870935	KPNB1			17	47655239	intron variant	G/A;C	snv		4
rs11902417				2	20976028	intergenic variant	G/A	snv	0.25	7
rs11925396				3	194391622	downstream gene variant	A/G	snv	1.9E-02	3
rs11987974	LOC105379376			8	36966299	intergenic variant	C/A;T	snv		4
rs12042319	DOCK7	1.000	0.040	1	62584148	3 prime UTR variant	G/A	snv	0.36	6
rs12047226	DOCK7			1	62639867	intron variant	T/A;C	snv		4