DisGeNET - a database of gene-disease associations

List of associated variants

Hypercholesterolemia, Familial, C0020445

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
rs28942084	LDLR	0.763	0.200	19	11120436	missense variant	C/A;T	snv	2.8E-05	4.2E-05	11
rs12713559	APOB	0.776	0.120	2	21006196	missense variant	G/A	snv	3.4E-04	5.0E-04	10
rs139043155	LDLR	0.790	0.200	19	11106668	missense variant	T/A	snv	3.2E-05	4.2E-05	10
rs137852912	PCSK9	0.776	0.120	1	55057454	missense variant	G/A;C;T	snv	7.2E-05		10
rs280519	TYK2	0.752	0.320	19	10362257	splice region variant	A/C;G	snv	0.50		10
rs515135		0.807	0.160	2	21063185	intergenic variant	T/C	snv		0.73	9
rs144467873	APOB	0.776	0.120	2	21006289	missense variant	G/A	snv	1.7E-04	6.3E-05	9
rs1333047	CDKN2B-AS1	0.790	0.240	9	22124505	intron variant	A/T	snv		0.63	9
rs750518671	LDLR	0.790	0.200	19	11128085	missense variant	G/A;C;T	snv	8.0E-06		9
rs118204060	LPL	0.807	0.160	8	19954279	missense variant	C/T	snv	4.0E-05	1.4E-05	9
rs879254850	MIR6886 ; LDLR	0.776	0.160	19	11113365	missense variant	A/G;T	snv	4.0E-06		9
rs374603772	PCSK9	0.776	0.160	1	55058630	missense variant	C/T	snv	4.4E-05	2.8E-05	9
rs11613352	R3HDM2	0.827	0.160	12	57398797	intron variant	C/T	snv		0.19	9
rs373822756	LDLR	0.807	0.200	19	11105568	missense variant	A/G;T	snv	5.2E-05		8
rs28942080	LDLR ; MIR6886	0.807	0.200	19	11113743	missense variant	G/A;C;T	snv	1.2E-05; 4.0E-06		8
rs879254925	MIR6886 ; LDLR	0.790	0.120	19	11113680	missense variant	G/T	snv			8
rs562556	PCSK9	0.827	0.280	1	55058564	missense variant	G/A	snv	0.86	0.83	8
rs11547917	LDLR	0.807	0.200	19	11107491	stop gained	C/A;G;T	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
rs879254693	LDLR	0.807	0.160	19	11107424	missense variant	T/A;C;G	snv			7
rs879254764	LDLR	0.827	0.360	19	11110752	frameshift variant	G/-	delins			7
rs879254965	LDLR	0.827	0.200	19	11116140	missense variant	G/A;C;T	snv			7
rs879255051	LDLR	0.827	0.120	19	11120091	splice acceptor variant	G/A;C	snv			7
rs28942078	LDLR ; MIR6886	0.827	0.080	19	11113376	missense variant	G/A;C;T	snv	1.2E-05		7