DisGeNET - a database of gene-disease associations

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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
rs3211852	CD36			7	80654305	intron variant	A/G	snv		0.99	2
rs370911	NOS1AP			1	162323515	intron variant	A/G	snv		0.99	6
rs830948	LRP2			2	169358254	intron variant	G/A	snv		0.99	3
rs7100433	ECHS1			10	133370298	intron variant	T/C	snv		0.98	3
rs2321168	STARD13 ; STARD13-AS			13	33279354	non coding transcript exon variant	G/A	snv		0.98	4
rs675504				11	102959002	upstream gene variant	A/G	snv		0.98	5
rs2819368	LMOD1			1	201941435	intron variant	C/T	snv		0.98	2
rs567279	PDE4B			1	66222346	intron variant	G/T	snv		0.97	4
rs1365771	LIPC			15	58568503	intron variant	T/A	snv		0.96	2
rs2820301	LMOD1			1	201943694	intron variant	G/A	snv		0.96	2
rs11921179	TRH			3	129976195	intron variant	G/A	snv		0.96	5
rs2661814	NOS1AP			1	162350216	intron variant	G/A	snv		0.95	2
rs6913696	GSTA1			6	52795833	intron variant	T/C	snv		0.95	2
rs9326246		0.925	0.040	11	116741017	intergenic variant	C/G	snv		0.93	9
rs2819371	LMOD1			1	201946530	5 prime UTR variant	A/C	snv		0.92	2
rs505151	PCSK9	0.732	0.360	1	55063514	missense variant	G/A	snv	0.95	0.90	18
rs9987289	LOC157273	1.000	0.040	8	9325848	non coding transcript exon variant	A/G	snv		0.87	10
rs570877	APOB			2	21028168	intron variant	T/G	snv		0.87	3
rs2126259	LOC157273	1.000		8	9327636	intron variant	T/C	snv		0.87	9
rs550619	APOB			2	21037729	intron variant	G/A	snv		0.86	3
rs531819	APOB			2	21040767	intron variant	T/G	snv		0.83	3
rs562556	PCSK9	0.827	0.280	1	55058564	missense variant	G/A	snv	0.86	0.83	8
rs643257	PCSK9			1	55062245	intron variant	C/T	snv		0.83	2
rs964184	ZPR1	0.716	0.440	11	116778201	3 prime UTR variant	G/C	snv		0.82	47
rs631220	PCSK9			1	55061806	intron variant	A/G	snv		0.82	2