DisGeNET - a database of gene-disease associations

List of associated variants

Low density lipoprotein cholesterol measurement, C0202117

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
rs11591147	PCSK9	0.677	0.360	1	55039974	missense variant	G/A;T	snv	1.2E-02		28
rs599839	PSRC1	0.724	0.360	1	109279544	downstream gene variant	G/A;C	snv			27
rs646776	CELSR2	0.752	0.240	1	109275908	downstream gene variant	C/T	snv		0.74	25
rs629301	CELSR2	0.851	0.120	1	109275684	3 prime UTR variant	G/T	snv		0.74	22
rs505151	PCSK9	0.732	0.360	1	55063514	missense variant	G/A	snv	0.95	0.90	18
rs11206510		0.763	0.240	1	55030366	intergenic variant	T/A;C;G	snv			16
rs12740374	CELSR2	0.851	0.040	1	109274968	3 prime UTR variant	G/T	snv		0.22	16
rs7528419	CELSR2	0.851	0.080	1	109274570	3 prime UTR variant	A/G	snv		0.23	13
rs602633		0.851	0.080	1	109278889	downstream gene variant	T/G	snv		0.63	10
rs12748152		1.000	0.120	1	26811902	upstream gene variant	C/T	snv		5.7E-02	8
rs1748195	DOCK7	0.851	0.120	1	62583922	intron variant	C/G;T	snv			8
rs4970834	CELSR2	0.925	0.160	1	109272258	intron variant	C/T	snv	0.17	0.21	8
rs562556	PCSK9	0.827	0.280	1	55058564	missense variant	G/A	snv	0.86	0.83	8
rs67608943	PCSK9	0.851	0.080	1	55046549	stop gained	C/G;T	snv	1.9E-04		8
rs17111503	PCSK9	0.925	0.160	1	55037775	upstream gene variant	A/G	snv		0.22	7
rs3761959	FCRL3	0.827	0.320	1	157699488	intron variant	C/A;G;T	snv			7
rs11207997	DOCK7 ; ANGPTL3			1	62596235	intron variant	C/T	snv		0.39	6
rs1167998	DOCK7			1	62465961	intron variant	C/A	snv		0.57	6
rs1168013	DOCK7	1.000	0.120	1	62531167	intron variant	C/G;T	snv			6
rs12042319	DOCK7	1.000	0.040	1	62584148	3 prime UTR variant	G/A	snv		0.36	6
rs2131925	DOCK7			1	62560271	intron variant	G/T	snv		0.57	6
rs2642438	MTARC1			1	220796686	missense variant	A/G	snv	0.75	0.78	6
rs28362261	PCSK9	0.851	0.160	1	55058129	missense variant	A/G	snv	1.2E-03	4.8E-03	6
rs28362286	PCSK9	0.851	0.080	1	55063542	stop gained	C/A;T	snv	5.6E-04		6
rs370911	NOS1AP			1	162323515	intron variant	A/G	snv		0.99	6