DisGeNET - a database of gene-disease associations

Source: ALL

Results per page

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
rs11223581	CNTN5			11	100302805	intron variant	A/G	snv		5.6E-02	1
rs1372791				13	106132916	regulatory region variant	T/C	snv		0.94	1
rs4839431	CYMP ; CYMP-AS1			1	110491187	non coding transcript exon variant	T/A;C	snv			1
rs12044963	KCND3	1.000	0.080	1	111849738	intron variant	G/T	snv		0.10	2
rs7105056	BCO2			11	112193708	non coding transcript exon variant	T/C	snv	0.97	0.95	1
rs2255327	BLK			8	11552483	intron variant	C/T	snv		1.2E-02	1
rs1392089				6	119544976	intergenic variant	C/T	snv		6.8E-02	1
rs17142462				7	119966578	intergenic variant	C/A;T	snv			1
rs1584468	PRR16			5	120601996	intron variant	G/A	snv		9.6E-02	1
rs9408926	CNTRL			9	121152596	synonymous variant	C/T	snv	3.8E-02	3.9E-02	1
rs9408928	RAB14			9	121189639	intron variant	T/C	snv		4.3E-02	1
rs17007761				2	122468047	intron variant	C/A	snv		6.0E-02	1
rs10108684	ZHX2			8	122960828	intron variant	G/A	snv		0.11	1
rs7060947	TENM1			X	124939813	intron variant	A/G	snv		4.2E-02	1
rs1940973	SPIRE1			18	12550748	intron variant	T/C	snv		8.0E-02	1
rs9959145	SPIRE1			18	12606464	intron variant	G/A;T	snv			1
rs17299841	LOC112267973			6	127700658	intergenic variant	A/C	snv		6.4E-02	1
rs12282	GOLGA3			12	132769223	3 prime UTR variant	C/T	snv		0.11	1
rs9835973	RAB6B			3	133870480	intron variant	C/T	snv		0.13	1
rs9493873	SGK1			6	134255373	intron variant	T/C	snv		3.9E-02	1
rs17231212	AGBL3 ; CYREN			7	135100989	intron variant	T/C	snv		6.1E-02	1
rs9389316	LINC00271			6	135679865	intron variant	C/A;T	snv			1
rs2268118	GRIN2B			12	13719110	intron variant	G/A;T	snv			1
rs11242417	GFRA3	1.000	0.040	5	138263645	intron variant	T/G	snv		0.13	2
rs13181561	SMIM33			5	139471320	intron variant	G/A	snv		0.61	1