DisGeNET - a database of gene-disease associations

Source: GWASCAT ×

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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
rs629301	CELSR2	0.851	0.120	1	109275684	3 prime UTR variant	G/T	snv		0.74	19
rs12748152		1.000	0.120	1	26811902	upstream gene variant	C/T	snv		5.7E-02	6
rs2642438	MTARC1			1	220796686	missense variant	A/G	snv	0.75	0.78	6
rs114165349	LOC101928728 ; ARID1A			1	26695422	intron variant	G/C	snv		1.7E-02	5
rs79598313	KDF1			1	26958422	intron variant	C/A;T	snv			5
rs1011731	DNM3 ; PIGC			1	172377408	intron variant	G/A	snv		0.46	4
rs10127775	GALNT2			1	230160042	intron variant	A/G;T	snv			4
rs10889353	DOCK7			1	62652525	intron variant	A/C;T	snv			4
rs10900522	NUCKS1			1	205714939	3 prime UTR variant	T/C	snv		0.21	4
rs1167998	DOCK7			1	62465961	intron variant	C/A	snv		0.57	4
rs1748195	DOCK7	0.851	0.120	1	62583922	intron variant	C/G;T	snv			4
rs4495740	DOCK7			1	62658794	intron variant	T/G	snv		0.34	4
rs10864728	GALNT2			1	230169168	intron variant	A/G	snv		0.50	3
rs10889348	DOCK7			1	62612551	intron variant	A/T	snv		0.32	3
rs11207995	DOCK7			1	62583880	intron variant	A/C;G	snv			3
rs1168013	DOCK7	1.000	0.120	1	62531167	intron variant	C/G;T	snv			3
rs12042319	DOCK7	1.000	0.040	1	62584148	3 prime UTR variant	G/A	snv		0.36	3
rs12047226	DOCK7			1	62639867	intron variant	T/A;C	snv			3
rs193084249				1	26661155	intergenic variant	A/G	snv		1.7E-02	3
rs2131925	DOCK7			1	62560271	intron variant	G/T	snv		0.57	3
rs3850634	DOCK7			1	62584927	intron variant	T/G	snv	0.33	0.34	3
rs4660808	PPIEL			1	39552837	intron variant	C/T	snv		0.17	3
rs4847240	DR1			1	93352389	intron variant	A/G	snv		0.51	3
rs6587980	DOCK7			1	62625187	synonymous variant	C/T	snv		0.40	3
rs7544735	RNU6ATAC35P	1.000	0.040	1	220825571	intron variant	G/A	snv		0.22	3