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	Num. diseases
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75	246
rs1544410	VDR	0.542	0.760	12	47846052	intron variant	C/A;G;T	snv		78
rs4673	CYBA	0.653	0.600	16	88646828	missense variant	A/G;T	snv	0.70	32
rs11887534	ABCG5 ; ABCG8	0.653	0.440	2	43839108	missense variant	G/A;C	snv	6.4E-06; 6.7E-02	29
rs11591147	PCSK9	0.677	0.360	1	55039974	missense variant	G/A;T	snv	1.2E-02	28
rs14259	PSMD9	0.724	0.360	12	121915890	missense variant	A/C;G	snv	4.0E-06; 0.32	19
rs765798193	PSMD9	0.732	0.320	12	121915884	frameshift variant	G/-;GG	delins		18
rs2228671	LDLR	0.790	0.160	19	11100236	stop gained	C/A;G;T	snv	1.6E-05; 8.9E-02	14
rs3825172	PSMD9	0.776	0.360	12	121902569	non coding transcript exon variant	C/G;T	snv		14
rs459552	APC	0.752	0.320	5	112841059	missense variant	T/A;G	snv	0.79	14
rs11932595	CLOCK	0.827	0.160	4	55457430	intron variant	A/G;T	snv		12
rs3824260	CYP7A1	0.742	0.160	8	58500631	upstream gene variant	A/G;T	snv		11
rs5888	SCARB1	0.752	0.200	12	124800202	synonymous variant	A/G;T	snv	0.59; 4.0E-06	11
rs137852912	PCSK9	0.776	0.120	1	55057454	missense variant	G/A;C;T	snv	7.2E-05	10
rs236918	PCSK7	0.776	0.160	11	117220893	non coding transcript exon variant	G/A;C	snv		10
rs267606661	APOE	0.763	0.120	19	44909101	missense variant	C/G;T	snv	3.9E-04; 1.0E-05	10
rs116928232	LIPA	0.827	0.120	10	89222511	missense variant	C/G;T	snv	1.2E-05; 9.1E-04	9
rs573658040	APOE	0.790	0.200	19	44908705	missense variant	C/G;T	snv	6.3E-06	9
rs879254925	MIR6886 ; LDLR	0.790	0.120	19	11113680	missense variant	G/T	snv		8
rs12422149	SLCO2B1	0.827	0.120	11	75172532	missense variant	G/A;T	snv	0.18	7
rs28942111	PCSK9	0.807	0.120	1	55044016	missense variant	T/A	snv		7
rs368657165	LDLR	0.827	0.080	19	11107436	stop gained	G/A;T	snv	4.0E-05	7
rs374045590	LDLR	0.827	0.080	19	11129598	missense variant	C/A;G	snv	4.0E-06; 8.0E-06	7
rs121908030	LDLR	0.851	0.080	19	11107484	missense variant	G/A;C;T	snv	4.0E-06	6
rs138947766	LDLR	0.851	0.080	19	11116883	stop gained	G/A;C	snv	8.0E-06	6