DisGeNET - a database of gene-disease associations

Source: GWASDB ×

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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
rs646776	CELSR2	0.752	0.240	1	109275908	downstream gene variant	C/T	snv	0.74	10
rs599839	PSRC1	0.724	0.360	1	109279544	downstream gene variant	G/A;C	snv		9
rs12740374	CELSR2	0.851	0.040	1	109274968	3 prime UTR variant	G/T	snv	0.22	8
rs602633		0.851	0.080	1	109278889	downstream gene variant	T/G	snv	0.63	8
rs629301	CELSR2	0.851	0.120	1	109275684	3 prime UTR variant	G/T	snv	0.74	8
rs11206510		0.763	0.240	1	55030366	intergenic variant	T/A;C;G	snv		7
rs7528419	CELSR2	0.851	0.080	1	109274570	3 prime UTR variant	A/G	snv	0.23	7
rs583104				1	109278685	downstream gene variant	G/T	snv	0.63	6
rs10789117	DOCK7 ; ANGPTL3			1	62606594	intron variant	A/C;T	snv		5
rs11207997	DOCK7 ; ANGPTL3			1	62596235	intron variant	C/T	snv	0.39	5
rs1167998	DOCK7			1	62465961	intron variant	C/A	snv	0.57	5
rs1748197	DOCK7			1	62590441	intron variant	G/A	snv	0.42	5
rs2131925	DOCK7			1	62560271	intron variant	G/T	snv	0.57	5
rs660240	CELSR2			1	109275216	3 prime UTR variant	T/C	snv	0.75	5
rs1277930	PSRC1			1	109279521	downstream gene variant	G/A	snv	0.63	4
rs10889353	DOCK7			1	62652525	intron variant	A/C;T	snv		3
rs10914144	DNM3			1	171980610	intron variant	T/C	snv	0.78	3
rs1748195	DOCK7	0.851	0.120	1	62583922	intron variant	C/G;T	snv		3
rs211718	SLC44A5			1	75640990	downstream gene variant	T/C	snv	0.75	3
rs10889338	DOCK7			1	62519226	intron variant	C/T	snv	0.34	2
rs11207995	DOCK7			1	62583880	intron variant	A/C;G	snv		2
rs1168013	DOCK7	1.000	0.120	1	62531167	intron variant	C/G;T	snv		2
rs1168045	DOCK7			1	62517220	intron variant	C/A;T	snv		2
rs1168046	DOCK7			1	62518022	intron variant	A/C;G	snv		2
rs1168047	DOCK7			1	62518080	intron variant	C/A;T	snv		2