DisGeNET - a database of gene-disease associations

List of shared variants

Hypercholesterolemia, C0020443

Disease: Hypercholesterolemia result

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
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
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
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
rs730882082	LDLR	0.882	0.080	19	11105315	missense variant	G/A;T	snv	1.6E-05		5
rs730882106	LDLR ; MIR6886	0.882	0.080	19	11113752	missense variant	C/A;T	snv	8.0E-06		5
rs879254900	LDLR ; MIR6886	0.882	0.080	19	11113612	missense variant	T/C	snv			5
rs879255145	LDLR	0.882	0.080	19	11120514	missense variant	G/A;C;T	snv			4