DisGeNET - a database of gene-disease associations

List of associated variants

Hypercholesterolemia result, C1522133

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
rs2228671	LDLR	0.790	0.160	19	11100236	stop gained	C/A;G;T	snv	1.6E-05; 8.9E-02		14
rs752596535	LDLR	0.752	0.200	19	11105407	stop gained	C/A;G;T	snv	1.6E-05		14
rs121908029	LDLR	0.763	0.200	19	11105588	stop gained	G/A;C;T	snv	1.6E-05; 1.6E-05; 8.1E-06		13
rs137929307	LDLR	0.752	0.240	19	11116928	missense variant	G/A	snv	4.4E-05	4.9E-05	12
rs28942084	LDLR	0.763	0.200	19	11120436	missense variant	C/A;T	snv	2.8E-05	4.2E-05	11
rs121908096	CYP27A1	0.827	0.320	2	218814186	missense variant	C/A;T	snv	8.0E-06; 2.9E-04		10
rs886556800	CYP27A1	0.827	0.320	2	218809576	splice acceptor variant	G/T	snv			10
rs139043155	LDLR	0.790	0.200	19	11106668	missense variant	T/A	snv	3.2E-05	4.2E-05	10
rs750518671	LDLR	0.790	0.200	19	11128085	missense variant	G/A;C;T	snv	8.0E-06		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
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
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
rs879254838	LDLR ; MIR6886	0.827	0.120	19	11113314	missense variant	A/C;T	snv			7
rs193922567	MIR6886 ; LDLR	0.807	0.120	19	11113451	splice donor variant	T/A;C	snv			7
rs570942190	MIR6886 ; LDLR	0.827	0.200	19	11113337	missense variant	C/T	snv	2.4E-05	7.0E-06	7
rs121908025	LDLR	0.851	0.080	19	11102732	missense variant	T/C;G	snv	2.8E-05	7.0E-06	6
rs121908026	LDLR	0.851	0.160	19	11105436	missense variant	C/T	snv	1.6E-05	3.5E-05	6
rs121908028	LDLR	0.851	0.080	19	11105587	missense variant	C/A;G;T	snv	8.1E-06; 8.1E-05		6
rs121908030	LDLR	0.851	0.080	19	11107484	missense variant	G/A;C;T	snv	4.0E-06		6