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
rs3850634	DOCK7			1	62584927	intron variant	T/G	snv	0.33	0.34	4
rs6587980	DOCK7			1	62625187	synonymous variant	C/T	snv		0.40	4
rs995000	DOCK7			1	62641855	intron variant	C/T	snv		0.34	4
rs10914144	DNM3			1	171980610	intron variant	T/C	snv		0.78	3
rs211718	SLC44A5			1	75640990	downstream gene variant	T/C	snv		0.75	3
rs4587594	DOCK7			1	62668259	intron variant	G/A	snv		0.36	3
rs636523	DOCK7			1	62454337	non coding transcript exon variant	A/G	snv		0.36	3
rs10889333	DOCK7			1	62491359	intron variant	G/A	snv		0.33	2
rs10889338	DOCK7			1	62519226	intron variant	C/T	snv		0.34	2
rs11208004	DOCK7			1	62679768	intron variant	G/A	snv		0.33	2
rs11485618	DOCK7			1	62628536	3 prime UTR variant	A/G	snv		0.34	2
rs1150253	IL24	1.000	0.080	1	206898250	intron variant	G/A;C	snv			2
rs1150258	IL24	1.000	0.080	1	206901560	missense variant	T/A;C;G	snv	0.40	0.40	2
rs1168041	DOCK7			1	62494579	non coding transcript exon variant	T/C	snv		0.61	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
rs1168050	DOCK7			1	62521284	intron variant	C/A;T	snv		0.58	2
rs1168097	DOCK7			1	62654700	intron variant	C/T	snv		0.57	2
rs12090886	DOCK7			1	62515769	intron variant	G/A	snv		0.57	2
rs12239736	DOCK7			1	62620326	intron variant	T/A	snv		0.38	2
rs35529421	DOCK7			1	62499950	intron variant	T/A;G	snv		0.37	2
rs4350231	DOCK7			1	62456989	intron variant	G/A	snv		0.33	2
rs583609	USP1			1	62451125	3 prime UTR variant	T/C	snv		0.42	2
rs597078	USP1			1	62452186	downstream gene variant	G/A;C;T	snv		0.43	2