DisGeNET - a database of gene-disease associations

Source: GWASDB ×

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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
rs10038095	HMGCR			5	75341886	intron variant	A/T	snv		0.38	3
rs10102164	RP1			8	54509054	upstream gene variant	G/A	snv		0.19	3
rs10306137	PTGS1			9	122376185	intron variant	C/T	snv		1.8E-02	3
rs1042031	APOB	0.790	0.200	2	21002881	stop gained	C/A;T	snv	8.0E-06; 0.15		3
rs10474434	HMGCR			5	75348856	intron variant	G/T	snv		0.20	3
rs10490626	LOC107985940			2	118078265	intergenic variant	G/A	snv		5.2E-02	3
rs10788994				1	55035303	upstream gene variant	C/T	snv		0.20	3
rs10858082	CELSR2			1	109256099	intron variant	G/A	snv		0.48	3
rs10888898	PCSK9			1	55050835	intron variant	A/G	snv		0.59	3
rs10916704	PLA2G5			1	20074498	intron variant	G/A;T	snv			3
rs11136341	PLEC			8	143969375	intron variant	A/G	snv		0.40	3
rs11206514	PCSK9			1	55050331	intron variant	C/A	snv		0.52	3
rs11220462	ST3GAL4			11	126374057	intron variant	G/A	snv		0.12	3
rs11224571	PGR			11	101047942	intron variant	C/A	snv		1.2E-02	3
rs11568373	ABCB11			2	168944893	synonymous variant	T/C	snv	5.8E-03	2.6E-02	3
rs11569321	CD40			20	46122724	missense variant	C/T	snv	1.0E-02	4.1E-02	3
rs11573244	PLA2G5			1	20081089	intron variant	C/T	snv		6.6E-03	3
rs11577931				1	109278262	downstream gene variant	A/G	snv		5.5E-02	3
rs1165287	PCSK9			1	55054539	intron variant	G/A	snv		0.52	3
rs11668319	MEF2B ; BORCS8 ; BORCS8-MEF2B			19	19185066	intron variant	A/G	snv		0.15	3
rs11806129	ABCA4			1	94016821	intron variant	A/G;T	snv			3
rs11806638	PCSK9			1	55052487	intron variant	C/A;G	snv			3
rs11867309	PCTP			17	55762788	intron variant	G/A	snv		3.3E-02	3
rs11868655	NLRP1			17	5522873	intron variant	T/C	snv		2.3E-02	3
rs11920918	UBXN7			3	196368689	intron variant	G/A	snv		8.5E-03	3