DisGeNET - a database of gene-disease associations

List of associated variants

Lipids measurement, C0523744

Source: ALL

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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
rs17267292	GPC5 ; LOC105370315			13	92670893	intron variant	T/C	snv		0.22	2
rs13247874	MLXIPL			7	73596112	intron variant	C/T	snv	0.15	0.15	1
rs115136538	ADAMTS3			4	72456848	intron variant	T/C	snv		5.7E-03	1
rs2229738	CPT1A			11	68794860	missense variant	C/G;T	snv	6.3E-02		2
rs17610395	CPT1A			11	68794860	missense variant	C/G;T	snv			1
rs186183604	RAD9A ; LOC100130987			11	67361262	intron variant	G/A;T	snv			1
rs10889353	DOCK7			1	62652525	intron variant	A/C;T	snv			5
rs1168029	DOCK7			1	62503731	intron variant	G/A;C	snv			1
rs1168041	DOCK7			1	62494579	non coding transcript exon variant	T/C	snv		0.61	2
rs1167998	DOCK7			1	62465961	intron variant	C/A	snv		0.57	6
rs174547	FADS2 ; FADS1	0.742	0.240	11	61803311	intron variant	T/C	snv		0.28	33
rs1532085	ALDH1A2	0.882	0.080	15	58391167	intron variant	A/G;T	snv			13
rs35853021	ALDH1A2			15	58388444	intron variant	G/T	snv		0.38	1
rs7499892	CETP			16	56972678	intron variant	C/G;T	snv			7
rs1532624	CETP	0.851	0.160	16	56971567	intron variant	C/A	snv		0.34	12
rs1864163	CETP	0.882	0.120	16	56963321	intron variant	G/A	snv		0.26	10
rs1800775	CETP	0.790	0.240	16	56961324	upstream gene variant	C/A;G	snv	0.51; 5.7E-06		18
rs3764261		0.732	0.280	16	56959412	upstream gene variant	C/A	snv		0.31	26
rs72669744				1	55650832	intron variant	C/T	snv		2.8E-02	1
rs17111684	USP24			1	55159875	intron variant	C/T	snv		3.8E-02	4
rs4939883	LOC105372112	1.000	0.040	18	49640844	TF binding site variant	T/C;G	snv			5
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
rs6065906				20	45925376	downstream gene variant	T/A;C;G	snv			6
rs6065904	PLTP	1.000	0.080	20	45906012	intron variant	G/A	snv		0.23	7