DisGeNET - a database of gene-disease associations

List of shared variants

Familial hypercholesterolemia - homozygous, C0342881

Disease: Low density lipoprotein increased

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
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
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
rs121908039	LDLR	0.882	0.080	19	11105457	missense variant	G/A;C	snv			5
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
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
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
rs376459828	LDLR	0.882	0.080	19	11105496	missense variant	G/A;T	snv	4.0E-06		5
rs730882096	LDLR	0.882	0.080	19	11110738	missense variant	G/A;T	snv	2.8E-05		5
rs730882109	LDLR	0.882	0.080	19	11116900	missense variant	C/G;T	snv	4.0E-06; 1.1E-04		5
rs746118995	LDLR	0.882	0.080	19	11120143	missense variant	C/T	snv	1.2E-05	2.8E-05	5
rs768563000	LDLR	0.925	0.080	19	11106588	stop gained	G/A;T	snv	2.8E-05		4
rs771019366	LDLR	0.882	0.080	19	11102742	missense variant	A/C;G	snv			5
rs793888517	LDLR	0.882	0.080	19	11102788	splice donor variant	T/A;C	snv			5
rs875989909	LDLR	0.882	0.080	19	11107486	missense variant	C/G	snv			5
rs875989929	LDLR	0.882	0.080	19	11116888	missense variant	G/A;T	snv			5
rs879254667	LDLR	0.882	0.080	19	11106631	missense variant	A/C	snv			5
rs879254770	LDLR	0.882	0.080	19	11110765	splice donor variant	CGAAGGTG/-	delins			5
rs879254867	LDLR ; MIR6886	0.882	0.080	19	11113420	stop gained	G/A;C;T	snv			5
rs879255000	LDLR	0.851	0.080	19	11116882	missense variant	T/C;G	snv			6