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
rs3811444	TRIM58			1	247876149	missense variant	C/T	snv	0.31	0.26	12
rs760077	MTX1 ; THBS3	0.925	0.120	1	155208991	missense variant	T/A	snv		0.36	8
rs6684514	TMEM79 ; SMG5	0.925	0.120	1	156285665	missense variant	G/A	snv	0.27	0.24	4
rs366684	PROX1			1	214013919	intron variant	G/A;C	snv			3
rs4133289	LINC02819			1	159484147	downstream gene variant	C/T	snv		0.16	3
rs4951074	ATP2B4	1.000	0.040	1	203691653	intron variant	A/G;T	snv			3
rs533281866	EGLN1			1	231422308	intron variant	G/A;C	snv			3
rs10494964	LOC105372912			1	213793544	intron variant	T/C	snv		0.45	2
rs12127588				1	198626376	intergenic variant	G/A;C;T	snv			2
rs4950322	LINC00624			1	147383114	non coding transcript exon variant	G/A	snv		0.18	2
rs11122272	EXOC8			1	231335026	3 prime UTR variant	A/G	snv		0.55	1
rs1181870	CCDC27			1	3768390	intron variant	C/A	snv		0.23	1
rs2230657	NASP			1	45607817	synonymous variant	G/A	snv	0.52	0.55	1
rs554019	DNM3			1	172171408	intron variant	C/T	snv		0.49	1
rs61804164	FCGR2B			1	161653235	intergenic variant	G/C	snv		1.0E-01	1
rs6665764	PROX1			1	214004080	intron variant	G/A	snv		0.27	1
rs4671393	BCL11A	0.790	0.400	2	60493816	intron variant	A/C;G	snv			11
rs10495928	PRKCE			2	46126027	intron variant	A/G	snv		0.36	5
rs13008603	PRKCE			2	46128709	intron variant	C/A	snv		0.10	5
rs10168349	PRKCE			2	46133768	intron variant	G/C	snv		0.36	4
rs114948639	PRKCE			2	46066687	intron variant	C/T	snv		7.2E-03	3
rs1160297	LOC105369165			2	53010182	intergenic variant	G/C	snv		0.69	3
rs11689538	TFCP2L1			2	121238062	intron variant	G/C	snv		0.11	3
rs17034641	PRKCE			2	46145505	intron variant	G/A	snv		0.16	3
rs17773190	LINC01118			2	46803224	intron variant	A/G	snv		0.32	3