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
rs28601761		1.000	0.040	8	125487789	intron variant	C/G	snv		0.37	13
rs4665972	SNX17			2	27375230	intron variant	T/C	snv		0.69	8
rs4410790	LOC101927609 ; AHR	0.882	0.160	7	17244953	intron variant	T/C	snv		0.54	5
rs784257	LOC105372130	1.000	0.080	18	55729968	intron variant	T/A;C	snv			4
rs702634	ARL15	1.000	0.080	5	53975590	intron variant	G/A	snv		0.72	3
rs146311723	USP3	1.000	0.080	15	63512308	intron variant	T/C	snv		0.14	2
rs6535594	NR3C2			4	148211605	intron variant	G/A	snv		0.54	2
rs67339103	LRMDA			10	76133928	intron variant	G/A;C;T	snv			2
rs10207567	ICA1L			2	202850250	intron variant	G/A;C	snv			1
rs11162351	AK5			1	77479047	intron variant	C/G	snv		0.31	1
rs1124694	LINC02752			11	11077129	intron variant	A/G;T	snv			1
rs1145074	SPATA5L1			15	45411626	intron variant	T/A;G	snv		0.45	1
rs12727980	LINC00862			1	200289967	intron variant	C/T	snv		0.54	1
rs1276720	CUBN			10	16929427	intron variant	C/T	snv		0.65	1
rs17368443	SBF2			11	10275289	intron variant	G/C	snv		5.3E-02	1
rs189107782	FRG1-DT			4	189807855	intron variant	C/T	snv		1.5E-03	1
rs2023844	HOTTIP			7	27203619	intron variant	G/A	snv		0.93	1
rs2338796	FBXL20			17	39399374	intron variant	A/G	snv		0.27	1
rs34823645	C2orf83			2	227647210	intron variant	T/C	snv		3.9E-04	1
rs35483183	COL4A4			2	227011971	intron variant	G/A	snv		8.4E-02	1
rs3805382	NMU			4	55605384	intron variant	A/G	snv	0.36	0.29	1
rs4109437	FRG1-DT			4	189848068	intron variant	G/A;C	snv			1
rs4738817	CHD7			8	60708054	intron variant	G/A	snv		0.36	1
rs539606836	CUBN			10	16963744	intron variant	G/A	snv		1.7E-04	1
rs55798132	LOC105377785			8	2808621	intron variant	G/A;T	snv			1