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
rs631106	USP1	1.000	0.040	1	62436136	upstream gene variant	C/A	snv		0.43	2
rs6690733	DOCK7	1.000	0.080	1	62594640	intron variant	A/C	snv		0.43	2
rs1002687	DOCK7			1	62498066	intron variant	G/A	snv		0.57	1
rs1007205	DOCK7			1	62471241	intron variant	T/A;C;G	snv			1
rs10157265	DOCK7			1	62627946	3 prime UTR variant	C/T	snv		0.43	1
rs10158897	USP1			1	62447248	intron variant	C/T	snv		0.33	1
rs10159255	DOCK7			1	62555145	intron variant	C/A	snv		0.36	1
rs10493322	USP1			1	62440222	intron variant	C/T	snv		0.33	1
rs10737709	LRRC8C			1	89661254	non coding transcript exon variant	A/G;T	snv			1
rs10783130				1	100341341	upstream gene variant	C/G	snv		0.21	1
rs10788817	THEM4			1	151910380	upstream gene variant	C/G;T	snv			1
rs10789112	DOCK7			1	62492087	intron variant	T/C	snv		0.33	1
rs10789113	DOCK7			1	62549528	intron variant	A/T	snv		0.36	1
rs10789114	DOCK7			1	62568551	intron variant	T/C	snv		0.33	1
rs10789116	DOCK7			1	62577067	intron variant	A/G	snv		0.34	1
rs10789118	DOCK7			1	62629021	3 prime UTR variant	A/G	snv		0.34	1
rs10789119	DOCK7			1	62632564	intron variant	G/A	snv		0.34	1
rs10801266				1	193924556	intron variant	G/A	snv		0.37	1
rs10801766	LRRC8C			1	89660375	intron variant	C/T	snv		0.35	1
rs10888908				1	55260846	intron variant	T/C;G	snv			1
rs10889330	DOCK7			1	62473795	intron variant	G/C	snv		0.39	1
rs10889331	DOCK7			1	62477336	intron variant	G/T	snv		0.57	1
rs10889334	DOCK7			1	62491528	intron variant	C/G	snv		0.34	1
rs10889335	DOCK7			1	62494430	synonymous variant	A/G	snv	0.34	0.35	1
rs10889336	DOCK7			1	62514739	intron variant	T/C	snv		0.34	1