DisGeNET - a database of gene-disease associations

List of associated variants

Hyperlipoproteinemia Type IIa, C0745103

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
rs28942078	LDLR ; MIR6886	0.827	0.080	19	11113376	missense variant	G/A;C;T	snv	1.2E-05		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
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
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
rs139617694	MIR6886 ; LDLR	0.851	0.080	19	11113534	splice acceptor variant	G/A;C	snv			6
rs144172724	LDLR	0.851	0.080	19	11102774	stop gained	G/A;T	snv	1.6E-05		6
rs373371572	LDLR	0.851	0.080	19	11116936	missense variant	C/T	snv	4.0E-06	2.8E-05	6
rs544453230	LDLR	0.882	0.080	19	11110714	missense variant	G/A;C	snv	2.8E-05; 4.0E-06		6
rs879255000	LDLR	0.851	0.080	19	11116882	missense variant	T/C;G	snv			6
rs1057519661	LDLR	0.882	0.080	19	11105587	frameshift variant	C/-	del			5
rs112029328	LDLR	0.882	0.080	19	11102787	splice donor variant	G/A;C;T	snv	2.8E-05; 4.0E-06; 4.0E-06; 4.0E-06		5
rs121908033	LDLR	0.882	0.080	19	11105429	missense variant	G/A;T	snv	8.0E-06		5
rs121908039	LDLR	0.882	0.080	19	11105457	missense variant	G/A;C	snv			5
rs121908043	MIR6886 ; LDLR	0.882	0.080	19	11113307	missense variant	C/A;T	snv	4.0E-06; 1.6E-05		5
rs144614838	MIR6886 ; LDLR	0.882	0.080	19	11113608	missense variant	G/A;T	snv	2.8E-05	2.8E-05	5
rs201573863	LDLR	0.882	0.080	19	11120478	missense variant	C/T	snv	2.0E-05	9.8E-05	5
rs28941776	LDLR	0.882	0.080	19	11116153	missense variant	G/A;T	snv	2.4E-05		5
rs376459828	LDLR	0.882	0.080	19	11105496	missense variant	G/A;T	snv	4.0E-06		5
rs397509365	LDLR	0.925	0.080	19	11116197	missense variant	A/C;G	snv	8.0E-06		5
rs730882082	LDLR	0.882	0.080	19	11105315	missense variant	G/A;T	snv	1.6E-05		5
rs730882096	LDLR	0.882	0.080	19	11110738	missense variant	G/A;T	snv	2.8E-05		5
rs730882106	LDLR ; MIR6886	0.882	0.080	19	11113752	missense variant	C/A;T	snv	8.0E-06		5