DisGeNET - a database of gene-disease associations

Source: GWASDB ×

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	Num. diseases
rs1321655	ATP1A2			1	160124668	intron variant	A/G;T	snv		5
rs2228603	NCAN	0.790	0.360	19	19219115	missense variant	C/A;T	snv	2.8E-05; 5.9E-02	5
rs7666097	KDR			4	55124971	intron variant	T/A;C	snv		5
rs11466654	TLR10			4	38774508	synonymous variant	T/C;G	snv	1.1E-03; 1.8E-05	4
rs11569302	CD40			20	46118465	intron variant	C/G;T	snv		4
rs11591147	PCSK9	0.677	0.360	1	55039974	missense variant	G/A;T	snv	1.2E-02	4
rs12394306	SYN1			X	47576648	splice region variant	A/C;T	snv	4.3E-03	4
rs16991720	KCNE1			21	34484464	intron variant	A/C	snv		4
rs1859287	SUGP1			19	19311378	intron variant	T/A;C;G	snv		4
rs2304128	GMIP			19	19635342	intron variant	G/C;T	snv		4
rs34630693	LRP1			12	57212472	missense variant	C/A;T	snv	1.2E-05; 2.0E-05	4
rs387976	NECTIN2	1.000	0.080	19	44875803	intron variant	A/C;T	snv		4
rs4245791	ABCG8	0.882	0.080	2	43847292	non coding transcript exon variant	C/A;T	snv		4
rs4722551	LOC105375199			7	25952206	upstream gene variant	T/C;G	snv		4
rs4803763	NECTIN2	1.000	0.080	19	44854034	intron variant	G/A;C	snv		4
rs585362				1	109247173	upstream gene variant	C/G;T	snv		4
rs6756629	ABCG5 ; ABCG8	0.925	0.080	2	43837951	missense variant	G/A;T	snv	6.7E-02	4
rs9341059	ESR1			6	152097101	intron variant	C/A;T	snv		4
rs1042031	APOB	0.790	0.200	2	21002881	stop gained	C/A;T	snv	8.0E-06; 0.15	3
rs10916704	PLA2G5			1	20074498	intron variant	G/A;T	snv		3
rs11024739	SPTY2D1			11	18624296	intron variant	C/A;G	snv		3
rs11806129	ABCA4			1	94016821	intron variant	A/G;T	snv		3
rs11806638	PCSK9			1	55052487	intron variant	C/A;G	snv		3
rs12113155	PRKAG2			7	151607887	intron variant	A/C;G	snv		3
rs13465	ILF3			19	10692116	3 prime UTR variant	A/C;G	snv		3