DisGeNET - a database of gene-disease associations

List of associated variants

Hypercholesterolemia, Familial, C0020445

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	Num. diseases
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75	246
rs4986790	TLR4	0.438	0.800	9	117713024	missense variant	A/G;T	snv	6.1E-02; 4.0E-06	223
rs5882	CETP	0.649	0.400	16	56982180	missense variant	G/A;C	snv	0.62	35
rs11591147	PCSK9	0.677	0.360	1	55039974	missense variant	G/A;T	snv	1.2E-02	28
rs118204057	LPL	0.732	0.400	8	19954222	missense variant	G/A;C	snv	1.9E-04	16
rs2228671	LDLR	0.790	0.160	19	11100236	stop gained	C/A;G;T	snv	1.6E-05; 8.9E-02	14
rs752596535	LDLR	0.752	0.200	19	11105407	stop gained	C/A;G;T	snv	1.6E-05	14
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
rs137852912	PCSK9	0.776	0.120	1	55057454	missense variant	G/A;C;T	snv	7.2E-05	10
rs280519	TYK2	0.752	0.320	19	10362257	splice region variant	A/C;G	snv	0.50	10
rs750518671	LDLR	0.790	0.200	19	11128085	missense variant	G/A;C;T	snv	8.0E-06	9
rs879254850	MIR6886 ; LDLR	0.776	0.160	19	11113365	missense variant	A/G;T	snv	4.0E-06	9
rs28942080	LDLR ; MIR6886	0.807	0.200	19	11113743	missense variant	G/A;C;T	snv	1.2E-05; 4.0E-06	8
rs373822756	LDLR	0.807	0.200	19	11105568	missense variant	A/G;T	snv	5.2E-05	8
rs879254925	MIR6886 ; LDLR	0.790	0.120	19	11113680	missense variant	G/T	snv		8
rs11547917	LDLR	0.807	0.200	19	11107491	stop gained	C/A;G;T	snv		7
rs193922567	MIR6886 ; LDLR	0.807	0.120	19	11113451	splice donor variant	T/A;C	snv		7
rs28942078	LDLR ; MIR6886	0.827	0.080	19	11113376	missense variant	G/A;C;T	snv	1.2E-05	7
rs28942111	PCSK9	0.807	0.120	1	55044016	missense variant	T/A	snv		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
rs879254693	LDLR	0.807	0.160	19	11107424	missense variant	T/A;C;G	snv		7
rs879254764	LDLR	0.827	0.360	19	11110752	frameshift variant	G/-	delins		7
rs879254838	LDLR ; MIR6886	0.827	0.120	19	11113314	missense variant	A/C;T	snv		7
rs879254965	LDLR	0.827	0.200	19	11116140	missense variant	G/A;C;T	snv		7