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
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
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
rs121908030	LDLR	0.851	0.080	19	11107484	missense variant	G/A;C;T	snv	4.0E-06		6
rs121908031	LDLR	0.851	0.160	19	11120425	stop gained	C/A;G	snv	8.0E-06		6
rs121908039	LDLR	0.882	0.080	19	11105457	missense variant	G/A;C	snv			5
rs137929307	LDLR	0.752	0.240	19	11116928	missense variant	G/A	snv	4.4E-05	4.9E-05	12
rs139043155	LDLR	0.790	0.200	19	11106668	missense variant	T/A	snv	3.2E-05	4.2E-05	10
rs144172724	LDLR	0.851	0.080	19	11102774	stop gained	G/A;T	snv	1.6E-05		6
rs201573863	LDLR	0.882	0.080	19	11120478	missense variant	C/T	snv	2.0E-05	9.8E-05	5
rs267607213	LDLR	0.851	0.160	19	11100286	stop gained	G/A;T	snv			6
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
rs373822756	LDLR	0.807	0.200	19	11105568	missense variant	A/G;T	snv	5.2E-05		8
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
rs750518671	LDLR	0.790	0.200	19	11128085	missense variant	G/A;C;T	snv	8.0E-06		9
rs752596535	LDLR	0.752	0.200	19	11105407	stop gained	C/A;G;T	snv	1.6E-05		14
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