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
rs1160985	TOMM40	1.000	0.080	19	44900155	intron variant	C/T	snv		0.52	6
rs10889353	DOCK7			1	62652525	intron variant	A/C;T	snv			5
rs4939883	LOC105372112	1.000	0.040	18	49640844	TF binding site variant	T/C;G	snv			5
rs506585				2	21174310	intergenic variant	G/A;C;T	snv			4
rs12713956	APOB			2	21018633	intron variant	A/G	snv		0.14	4
rs17249141	LDLR			19	11089332	upstream gene variant	C/T	snv		3.3E-03	4
rs331	LPL			8	19962894	intron variant	G/A	snv		0.30	4
rs11644601	RRN3 ; PDXDC1			16	15078261	intron variant	T/C	snv		0.21	4
rs17111684	USP24			1	55159875	intron variant	C/T	snv		3.8E-02	4
rs1059611	LPL			8	19967052	3 prime UTR variant	T/C	snv		0.13	3
rs55791371	SMARCA4	0.925	0.080	19	11077477	intron variant	A/C	snv		0.11	3
rs312985				2	21155933	regulatory region variant	A/G	snv		0.75	2
rs2229738	CPT1A			11	68794860	missense variant	C/G;T	snv	6.3E-02		2
rs1168041	DOCK7			1	62494579	non coding transcript exon variant	T/C	snv		0.61	2
rs17267292	GPC5 ; LOC105370315			13	92670893	intron variant	T/C	snv		0.22	2
rs6917603	ZNRD1ASP			6	30049294	intron variant	T/C	snv		0.15	2
rs190121281				19	19141970	upstream gene variant	G/A	snv		3.5E-03	1
rs67418890				1	161571067	intron variant	T/A;C	snv			1
rs72669744				1	55650832	intron variant	C/T	snv		2.8E-02	1
rs115136538	ADAMTS3			4	72456848	intron variant	T/C	snv		5.7E-03	1
rs35853021	ALDH1A2			15	58388444	intron variant	G/T	snv		0.38	1
rs17610395	CPT1A			11	68794860	missense variant	C/G;T	snv			1
rs1168029	DOCK7			1	62503731	intron variant	G/A;C	snv			1
rs7228085	LOC105372112			18	49634444	intergenic variant	A/G	snv		0.53	1
rs181807530	MINK1			17	4871519	intron variant	C/G	snv		4.8E-03	1