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
rs17240378	LCAT			16	67942790	intron variant	G/C;T	snv	4.0E-06	6
rs2072183	NPC1L1	0.925	0.040	7	44539581	synonymous variant	G/A;C	snv	4.0E-06; 0.25	6
rs2980875				8	125469505	intron variant	A/C;G;T	snv		6
rs3093267	F7			13	113118661	missense variant	G/A;T	snv	8.0E-05	6
rs33980385	CYP2B6			19	40991388	missense variant	A/G	snv		6
rs519113	NECTIN2	1.000	0.080	19	44873027	intron variant	C/G;T	snv		6
rs9341023	ESR1			6	152062578	intron variant	C/T	snv		6
rs1065853				19	44909976	non coding transcript exon variant	G/A;C;T	snv		5
rs10789117	DOCK7 ; ANGPTL3			1	62606594	intron variant	A/C;T	snv		5
rs1321655	ATP1A2			1	160124668	intron variant	A/G;T	snv		5
rs1501908		1.000	0.040	5	156971158	intergenic variant	G/A;C;T	snv		5
rs2255141	GPAM			10	112174128	intron variant	A/G;T	snv		5
rs2304128	GMIP			19	19635342	intron variant	G/C;T	snv		5
rs4722551	LOC105375199			7	25952206	upstream gene variant	T/C;G	snv		5
rs6698843	CELSR2	0.925	0.080	1	109264212	synonymous variant	C/A;T	snv	4.0E-06; 0.44	5
rs6756629	ABCG5 ; ABCG8	0.925	0.080	2	43837951	missense variant	G/A;T	snv	6.7E-02	5
rs7666097	KDR			4	55124971	intron variant	T/A;C	snv		5
rs11206517	PCSK9	1.000	0.120	1	55060755	intron variant	T/C;G	snv		4
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
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
rs17725246	NPC1L1			7	44542387	upstream gene variant	T/A;C	snv		4
rs1859287	SUGP1			19	19311378	intron variant	T/A;C;G	snv		4
rs34630693	LRP1			12	57212472	missense variant	C/A;T	snv	1.2E-05; 2.0E-05	4