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
rs10789117	DOCK7 ; ANGPTL3			1	62606594	intron variant	A/C;T	snv			5
rs10889348	DOCK7			1	62612551	intron variant	A/T	snv		0.32	4
rs10889353	DOCK7			1	62652525	intron variant	A/C;T	snv			5
rs10900522	NUCKS1			1	205714939	3 prime UTR variant	T/C	snv		0.21	4
rs11207995	DOCK7			1	62583880	intron variant	A/C;G	snv			4
rs11207997	DOCK7 ; ANGPTL3			1	62596235	intron variant	C/T	snv		0.39	6
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
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
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
rs12748152		1.000	0.120	1	26811902	upstream gene variant	C/T	snv		5.7E-02	8
rs1456649	FMN2			1	240288305	intron variant	G/C	snv		3.0E-03	5
rs1748195	DOCK7	0.851	0.120	1	62583922	intron variant	C/G;T	snv			8
rs1748197	DOCK7			1	62590441	intron variant	G/A	snv		0.42	5
rs193084249				1	26661155	intergenic variant	A/G	snv		1.7E-02	3
rs2131925	DOCK7			1	62560271	intron variant	G/T	snv		0.57	6
rs2642438	MTARC1			1	220796686	missense variant	A/G	snv	0.75	0.78	6
rs34499590	LEPR			1	65616108	missense variant	C/G;T	snv	2.5E-03		3
rs370911	NOS1AP			1	162323515	intron variant	A/G	snv		0.99	6
rs3850634	DOCK7			1	62584927	intron variant	T/G	snv	0.33	0.34	4
rs4495740	DOCK7			1	62658794	intron variant	T/G	snv		0.34	5
rs4587594	DOCK7			1	62668259	intron variant	G/A	snv		0.36	3
rs4970834	CELSR2	0.925	0.160	1	109272258	intron variant	C/T	snv	0.17	0.21	8