DisGeNET - a database of gene-disease associations

List of shared variants

Low density lipoprotein increased, C0549399

Disease: Hypercholesterolemia

Source: CLINVAR ×

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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
rs137929307	LDLR	0.752	0.240	19	11116928	missense variant	G/A	snv	4.4E-05	4.9E-05	10
rs121908030	LDLR	0.851	0.080	19	11107484	missense variant	G/A;C;T	snv	4.0E-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
rs368657165	LDLR	0.827	0.080	19	11107436	stop gained	G/A;T	snv	4.0E-05		6
rs374045590	LDLR	0.827	0.080	19	11129598	missense variant	C/A;G	snv	4.0E-06; 8.0E-06		5