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	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs7938117	CPT1A	11	68830586	intron variant	G/A;C	snv			4
rs176813		4	68733813	regulatory region variant	T/C	snv		0.38	4
rs28917504	CD4	12	6814956	missense variant	A/G	snv	1.5E-03	6.4E-03	4
rs17240378	LCAT	16	67942790	intron variant	G/C;T	snv	4.0E-06		6
rs11465759	IL23R ; C1orf141	1	67166721	intron variant	T/G	snv		2.4E-02	4
rs567279	PDE4B	1	66222346	intron variant	G/T	snv		0.97	4
rs1801689	APOH	17	66214462	missense variant	A/C;G	snv	4.0E-06; 2.4E-02; 4.8E-05		7
rs34499590	LEPR	1	65616108	missense variant	C/G;T	snv	2.5E-03		3
rs2249105	CEP68	2	65060762	intron variant	A/G	snv		0.40	5
rs2845885	FLRT1 ; MACROD1	11	64101590	intron variant	C/T	snv		0.87	5
rs6062343	TCEA2	20	64064578	intron variant	G/A	snv		0.44	2
rs3999089	JMJD1C	10	63444048	intron variant	A/G	snv		0.41	2
rs7902343	JMJD1C	10	63245639	intron variant	C/T	snv		0.40	2
rs10761716		10	63122540	downstream gene variant	C/G	snv		0.40	3
rs4587594	DOCK7	1	62668259	intron variant	G/A	snv		0.36	3
rs4495740	DOCK7	1	62658794	intron variant	T/G	snv		0.34	5
rs10889353	DOCK7	1	62652525	intron variant	A/C;T	snv			5
rs995000	DOCK7	1	62641855	intron variant	C/T	snv		0.34	4
rs12047226	DOCK7	1	62639867	intron variant	T/A;C	snv			4
rs6587980	DOCK7	1	62625187	synonymous variant	C/T	snv		0.40	4
rs10889348	DOCK7	1	62612551	intron variant	A/T	snv		0.32	4
rs10789117	DOCK7 ; ANGPTL3	1	62606594	intron variant	A/C;T	snv			5
rs11207997	DOCK7 ; ANGPTL3	1	62596235	intron variant	C/T	snv		0.39	6
rs1748197	DOCK7	1	62590441	intron variant	G/A	snv		0.42	5
rs3850634	DOCK7	1	62584927	intron variant	T/G	snv	0.33	0.34	4