DisGeNET - a database of gene-disease associations

List of associated variants

Hypercholesterolemia, C0020443

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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs699	AGT	0.501	0.800	1	230710048	missense variant	A/G	snv	0.55	0.58	134
rs1137101	LEPR	0.554	0.760	1	65592830	missense variant	A/G	snv	0.51	0.50	77
rs11591147	PCSK9	0.677	0.360	1	55039974	missense variant	G/A;T	snv	1.2E-02		28
rs505151	PCSK9	0.732	0.360	1	55063514	missense variant	G/A	snv	0.95	0.90	18
rs137852912	PCSK9	0.776	0.120	1	55057454	missense variant	G/A;C;T	snv	7.2E-05		10
rs374603772	PCSK9	0.776	0.160	1	55058630	missense variant	C/T	snv	4.4E-05	2.8E-05	9
rs562556	PCSK9	0.827	0.280	1	55058564	missense variant	G/A	snv	0.86	0.83	8
rs28942111	PCSK9	0.807	0.120	1	55044016	missense variant	T/A	snv			7
rs564427867	PCSK9	0.807	0.160	1	55039931	missense variant	G/A	snv	2.8E-05	2.8E-05	6
rs2235543	HSD11B1-AS1 ; HSD11B1	0.925	0.080	1	209687323	intron variant	T/A;C	snv			4
rs141502002	PCSK9	0.882	0.080	1	55058549	missense variant	C/T	snv	6.0E-04	2.8E-03	3
rs1746661	FNDC5	0.925	0.080	1	32869438	intron variant	G/A;T	snv			3
rs370507566	PCSK9	0.882	0.040	1	55057404	missense variant	G/A;T	snv	4.0E-05; 1.2E-05		3
rs752849346	LDLRAP1	0.882	0.080	1	25554000	missense variant	C/T	snv	3.2E-05	2.1E-05	3
rs794728683	PCSK9	0.882	0.080	1	55052398	missense variant	G/A;T	snv	4.0E-06		3
rs970575319	PCSK9	0.882	0.040	1	55052408	missense variant	A/T	snv			3
rs35605815	PCSK9	0.925	0.040	1	55052407	frameshift variant	-/T	ins			2
rs4393158	HSD11B1-AS1	1.000	0.040	1	209678552	intron variant	A/G;T	snv			2
rs16827671	CTSS	1.000	0.040	1	150766283	upstream gene variant	T/C	snv		0.35	1
rs16944	IL1B	0.531	0.920	2	112837290	upstream gene variant	A/G	snv		0.57	92
rs11887534	ABCG5 ; ABCG8	0.653	0.440	2	43839108	missense variant	G/A;C	snv	6.4E-06; 6.7E-02		29
rs693	APOB	0.708	0.440	2	21009323	synonymous variant	G/A	snv	0.39	0.38	24
rs5742904	APOB	0.689	0.280	2	21006288	missense variant	C/A;T	snv	2.8E-04	7.3E-04	22