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
rs2228480	ESR1	0.724	0.360	6	152098960	synonymous variant	G/A	snv	0.19	0.18	16
rs505151	PCSK9	0.732	0.360	1	55063514	missense variant	G/A	snv	0.95	0.90	18
rs765798193	PSMD9	0.732	0.320	12	121915884	frameshift variant	G/-;GG	delins			18
rs3798577	ESR1	0.742	0.320	6	152099995	3 prime UTR variant	T/C	snv		0.45	16
rs3824260	CYP7A1	0.742	0.160	8	58500631	upstream gene variant	A/G;T	snv			11
rs459552	APC	0.752	0.320	5	112841059	missense variant	T/A;G	snv	0.79		14
rs3736228	LRP5	0.752	0.400	11	68433827	missense variant	C/T	snv	0.13	0.11	13
rs137929307	LDLR	0.752	0.240	19	11116928	missense variant	G/A	snv	4.4E-05	4.9E-05	12
rs5888	SCARB1	0.752	0.200	12	124800202	synonymous variant	A/G;T	snv	0.59; 4.0E-06		11
rs7566605	LOC107985940	0.752	0.320	2	118078449	regulatory region variant	C/G	snv		0.70	11
rs28942084	LDLR	0.763	0.200	19	11120436	missense variant	C/A;T	snv	2.8E-05	4.2E-05	11
rs267606661	APOE	0.763	0.120	19	44909101	missense variant	C/G;T	snv	3.9E-04; 1.0E-05		10
rs17321515		0.776	0.200	8	125474167	intron variant	A/G	snv		0.49	16
rs3825172	PSMD9	0.776	0.360	12	121902569	non coding transcript exon variant	C/G;T	snv			14
rs12713559	APOB	0.776	0.120	2	21006196	missense variant	G/A	snv	3.4E-04	5.0E-04	10
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
rs144467873	APOB	0.776	0.120	2	21006289	missense variant	G/A	snv	1.7E-04	6.3E-05	9
rs374603772	PCSK9	0.776	0.160	1	55058630	missense variant	C/T	snv	4.4E-05	2.8E-05	9
rs2228671	LDLR	0.790	0.160	19	11100236	stop gained	C/A;G;T	snv	1.6E-05; 8.9E-02		14
rs1004467	CYP17A1 ; CYP17A1-AS1	0.790	0.280	10	102834750	non coding transcript exon variant	A/G	snv	0.15	0.14	13
rs4580704	CLOCK	0.790	0.200	4	55460540	intron variant	G/C	snv		0.69	13
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
rs515135		0.807	0.160	2	21063185	intergenic variant	T/C	snv		0.73	9