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
rs6981691	VPS13B			8	99843615	intron variant	C/T	snv		3.7E-02	2
rs7827408	VPS13B			8	99527615	intron variant	C/T	snv		2.3E-02	3
rs6459512	OFCC1			6	9933437	intron variant	G/A	snv		3.7E-02	2
rs11568767	TGFBR1			9	99132990	intron variant	C/T	snv		3.7E-03	4
rs11568746	TGFBR1			9	99105926	intron variant	C/G	snv		2.1E-05	6
rs2229459	BDKRB1			14	96264431	missense variant	C/T	snv	2.9E-04	3.9E-04	2
rs12428035				13	95648618	upstream gene variant	C/A;T	snv			3
rs328996	RALBP1			18	9526186	intron variant	T/A;C	snv			2
rs329007	RALBP1			18	9522608	intron variant	G/A	snv		0.79	2
rs9590177	ABCC4			13	95083956	intron variant	C/T	snv		3.4E-02	2
rs56871159	SERPINA3			14	94614449	missense variant	G/A;C;T	snv	1.2E-02		2
rs1144302	F3			1	94534558	intron variant	C/T	snv		4.2E-02	2
rs598962	ABCD3			1	94451093	intron variant	A/C;G	snv			3
rs9584224	GPC6			13	94403472	3 prime UTR variant	G/A	snv		4.0E-02	2
rs17580	SERPINA1	0.776	0.160	14	94380925	missense variant	T/A	snv	2.3E-02	2.9E-02	14
rs28929474	SERPINA1	0.708	0.320	14	94378610	missense variant	C/G;T	snv	2.8E-05; 1.1E-02		37
rs17110922	ABCA4			1	94043489	intron variant	A/T	snv	2.5E-03	9.9E-03	2
rs12087003	ABCA4			1	94037627	intron variant	A/G	snv		6.3E-02	3
rs11806129	ABCA4			1	94016821	intron variant	A/G;T	snv			3
rs2126259	LOC157273	1.000		8	9327636	intron variant	T/C	snv		0.87	9
rs6601299	LOC157273	0.925	0.040	8	9327181	intron variant	T/C	snv		0.88	5
rs4240624	LOC157273	0.882	0.040	8	9326721	intron variant	G/A	snv		0.87	5
rs4841132	LOC157273			8	9326086	non coding transcript exon variant	A/G	snv		0.89	14
rs9987289	LOC157273	1.000	0.040	8	9325848	non coding transcript exon variant	A/G	snv		0.87	10
rs2169387	LOC157273			8	9323885	intron variant	A/G	snv		0.87	6