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	Num. diseases
rs387976	NECTIN2	1.000	0.080	19	44875803	intron variant	A/C;T	snv		4
rs4803763	NECTIN2	1.000	0.080	19	44854034	intron variant	G/A;C	snv		4
rs506585				2	21174310	intergenic variant	G/A;C;T	snv		4
rs585362				1	109247173	upstream gene variant	C/G;T	snv		4
rs6657811	CELSR2			1	109264661	intron variant	A/C;T	snv	4.0E-06; 0.10	4
rs9341059	ESR1			6	152097101	intron variant	C/A;T	snv		4
rs10260606				7	44544952	upstream gene variant	G/A;C	snv		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
rs16940391	LIPC			15	58507449	intron variant	C/A;G	snv		3
rs2075642	NECTIN2			19	44874210	intron variant	G/A;T	snv		3
rs2254287	COL11A2	1.000	0.040	6	33176171	intron variant	C/A;G;T	snv		3
rs2328223				20	17865277	intergenic variant	A/C;G;T	snv		3
rs2569559	LDLR			19	11103857	non coding transcript exon variant	T/A;G	snv		3
rs2854725	APOB			2	21014914	intron variant	T/A;G	snv		3
rs2902940	LOC105372618			20	40462847	regulatory region variant	A/G;T	snv		3
rs34499590	LEPR			1	65616108	missense variant	C/G;T	snv	2.5E-03	3
rs3852856	NECTIN2			19	44858317	intron variant	G/A;C;T	snv		3
rs472875	KL			13	33039909	intron variant	A/G;T	snv		3
rs4804144	LDLR			19	11125504	intron variant	C/A;T	snv		3
rs4844614	CR1L	1.000	0.040	1	207701830	intron variant	G/C;T	snv		3