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
rs3123543	ATF3			1	212617344	intron variant	T/A;C	snv			13
rs3811444	TRIM58			1	247876149	missense variant	C/T	snv	0.31	0.26	12
rs1434282	LINC01221			1	199041592	non coding transcript exon variant	C/T	snv		0.76	6
rs1175550	SMIM1			1	3774964	intron variant	A/G	snv		0.31	5
rs2022003	SPTA1			1	158617176	intron variant	A/T	snv		0.28	5
rs11211480	TAL1			1	47227548	non coding transcript exon variant	A/G	snv		0.42	4
rs4951378	ATP2B4			1	203689654	intron variant	A/G	snv		0.83	4
rs61823972	TMCC2			1	205232197	intron variant	A/C;T	snv			4
rs6684514	TMEM79 ; SMG5	0.925	0.120	1	156285665	missense variant	G/A	snv	0.27	0.24	4
rs7529925	LINC01221			1	199038079	intron variant	C/T	snv		0.77	4
rs1036332	LINC01221			1	199043349	intron variant	A/C	snv		0.70	3
rs1043879	RSRP1			1	25243590	missense variant	T/C	snv	0.20	0.19	3
rs1419114	ATP2B4			1	203683316	synonymous variant	A/G	snv	0.88	0.83	3
rs2157691	SPTA1			1	158613048	intron variant	G/C	snv		0.24	3
rs2246434	SPTA1			1	158648665	intron variant	G/A	snv	0.26	0.22	3
rs2984618	TAL1	0.925	0.040	1	47224766	intron variant	G/T	snv		0.52	3
rs4951074	ATP2B4	1.000	0.040	1	203691653	intron variant	A/G;T	snv			3
rs857725	SPTA1			1	158638145	stop gained	T/A;G	snv	4.0E-06; 0.28		3
rs861409	SPTA1			1	158650687	intron variant	C/A;G	snv			3
rs10751450	ATP2B4			1	203681817	intron variant	C/G;T	snv			2
rs11265022		1.000	0.040	1	158542829	downstream gene variant	T/A	snv		0.21	2
rs1172129	TMCC2			1	205275844	intron variant	T/A	snv		0.30	2
rs1172130	TMCC2			1	205275825	intron variant	G/A	snv		0.30	2
rs1172149	TMCC2			1	205255630	intron variant	A/G	snv		0.51	2
rs11811522	SPTA1			1	158634353	intron variant	G/A	snv		0.35	2