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
rs4288924				14	68835682	intergenic variant	G/A;T	snv			1
rs6712846				2	207024356	intergenic variant	G/A	snv		0.53	1
rs11162351	AK5			1	77479047	intron variant	C/G	snv		0.31	1
rs144994089	AQP7			9	33385158	missense variant	C/T	snv	7.0E-04	8.2E-04	1
rs34823645	C2orf83			2	227647210	intron variant	T/C	snv		3.9E-04	1
rs2601006	CCT2 ; MIR3913-1			12	69585737	5 prime UTR variant	C/T	snv		0.39	1
rs4738817	CHD7			8	60708054	intron variant	G/A	snv		0.36	1
rs35483183	COL4A4			2	227011971	intron variant	G/A	snv		8.4E-02	1
rs1276720	CUBN			10	16929427	intron variant	C/T	snv		0.65	1
rs141640975	CUBN			10	16950012	missense variant	G/A	snv	1.7E-03	1.5E-03	1
rs144360241	CUBN			10	16925418	missense variant	T/C	snv	5.6E-03	5.3E-03	1
rs1801239	CUBN	0.827	0.160	10	16877053	missense variant	T/C;G	snv	8.9E-02; 8.0E-06		1
rs539606836	CUBN			10	16963744	intron variant	G/A	snv		1.7E-04	1
rs7731168	CWC27			5	65000644	intron variant	G/C	snv		0.29	1
rs2338796	FBXL20			17	39399374	intron variant	A/G	snv		0.27	1
rs189107782	FRG1-DT			4	189807855	intron variant	C/T	snv		1.5E-03	1
rs4109437	FRG1-DT			4	189848068	intron variant	G/A;C	snv			1
rs838142	FUT1 ; IZUMO1			19	48748894	3 prime UTR variant	A/G	snv		0.39	1
rs2023844	HOTTIP			7	27203619	intron variant	G/A	snv		0.93	1
rs10207567	ICA1L			2	202850250	intron variant	G/A;C	snv			1
rs12727980	LINC00862			1	200289967	intron variant	C/T	snv		0.54	1
rs1124694	LINC02752			11	11077129	intron variant	A/G;T	snv			1
rs183131780	LOC105373914 ; LOC107985992			2	225820170	intergenic variant	C/T	snv		1.0E-03	1
rs55798132	LOC105377785			8	2808621	intron variant	G/A;T	snv			1
rs3759794	LTK			15	41514460	upstream gene variant	G/A	snv		0.12	1