DisGeNET - a database of gene-disease associations

List of associated variants

Familial hypercholesterolemia - heterozygous, C0342882

Source: ALL

Results per page

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
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs699	AGT	0.501	0.800	1	230710048	missense variant	A/G	snv	0.55	0.58	134
rs1267969615	ACE	0.532	0.760	17	63490960	missense variant	T/C	snv	4.0E-06		100
rs2032582	ABCB1	0.538	0.800	7	87531302	missense variant	A/C;T	snv	0.54; 3.8E-02		97
rs4149056	SLCO1B1	0.633	0.480	12	21178615	missense variant	T/C	snv	0.13	0.12	45
rs1799883	FABP2	0.658	0.440	4	119320747	missense variant	T/A;C;G	snv	0.73		36
rs11887534	ABCG5 ; ABCG8	0.653	0.440	2	43839108	missense variant	G/A;C	snv	6.4E-06; 6.7E-02		29
rs599839	PSRC1	0.724	0.360	1	109279544	downstream gene variant	G/A;C	snv			27
rs2230806	ABCA1	0.689	0.280	9	104858586	missense variant	C/T	snv	0.32	0.39	24
rs5742904	APOB	0.689	0.280	2	21006288	missense variant	C/A;T	snv	2.8E-04	7.3E-04	22
rs3846662	HMGCR	0.763	0.280	5	75355259	non coding transcript exon variant	A/G	snv	0.50	0.58	12
rs4148217	ABCG8	0.790	0.280	2	43872294	missense variant	C/A;T	snv	0.21; 1.2E-05		11
rs28942084	LDLR	0.763	0.200	19	11120436	missense variant	C/A;T	snv	2.8E-05	4.2E-05	11
rs137852912	PCSK9	0.776	0.120	1	55057454	missense variant	G/A;C;T	snv	7.2E-05		10
rs1035071612	MIR6886 ; LDLR	0.763	0.240	19	11113361	missense variant	C/A;T	snv	4.0E-06		9
rs879254850	MIR6886 ; LDLR	0.776	0.160	19	11113365	missense variant	A/G;T	snv	4.0E-06		9
rs879254925	MIR6886 ; LDLR	0.790	0.120	19	11113680	missense variant	G/T	snv			8
rs368657165	LDLR	0.827	0.080	19	11107436	stop gained	G/A;T	snv	4.0E-05		7
rs28942078	LDLR ; MIR6886	0.827	0.080	19	11113376	missense variant	G/A;C;T	snv	1.2E-05		7
rs9370867	MYLIP	0.827	0.120	6	16145094	missense variant	A/G	snv	0.60	0.63	7
rs121908025	LDLR	0.851	0.080	19	11102732	missense variant	T/C;G	snv	2.8E-05	7.0E-06	6
rs121908028	LDLR	0.851	0.080	19	11105587	missense variant	C/A;G;T	snv	8.1E-06; 8.1E-05		6
rs138947766	LDLR	0.851	0.080	19	11116883	stop gained	G/A;C	snv	8.0E-06		6
rs759003763	MIR6886 ; LDLR	0.827	0.120	19	11113585	missense variant	G/A	snv			6