DisGeNET - a database of gene-disease associations

List of associated variants

Eyelid Xanthoma, C0155210

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
rs139043155	LDLR	0.790	0.200	19	11106668	missense variant	T/A	snv	3.2E-05	4.2E-05	10
rs28942084	LDLR	0.763	0.200	19	11120436	missense variant	C/A;T	snv	2.8E-05	4.2E-05	9
rs750518671	LDLR	0.790	0.200	19	11128085	missense variant	G/A;C;T	snv	8.0E-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
rs11547917	LDLR	0.807	0.200	19	11107491	stop gained	C/A;G;T	snv			7
rs879254965	LDLR	0.827	0.200	19	11116140	missense variant	G/A;C;T	snv			7
rs879255051	LDLR	0.827	0.120	19	11120091	splice acceptor variant	G/A;C	snv			7
rs879254838	LDLR ; MIR6886	0.827	0.120	19	11113314	missense variant	A/C;T	snv			7
rs193922567	MIR6886 ; LDLR	0.807	0.120	19	11113451	splice donor variant	T/A;C	snv			7
rs570942190	MIR6886 ; LDLR	0.827	0.200	19	11113337	missense variant	C/T	snv	2.4E-05	7.0E-06	7
rs730882094	LDLR	0.827	0.120	19	11110658	missense variant	A/C;G	snv	1.6E-05		6
rs879254592	LDLR	0.827	0.120	19	11105517	missense variant	G/A;C;T	snv			6
rs879254712	LDLR	0.827	0.200	19	11107470	frameshift variant	C/-	del			6
rs879254977	LDLR	0.827	0.120	19	11116168	stop gained	-/GCTGGTGA	delins			6
rs879255193	LDLR	0.851	0.120	19	11129512	splice acceptor variant	G/A;C	snv			6
rs879255196	LDLR	0.827	0.120	19	11129519	missense variant	T/G	snv			6
rs730882102	MIR6886 ; LDLR	0.827	0.120	19	11113590	missense variant	G/A;T	snv	5.6E-05	2.1E-05	6
rs1057516674	G6PC	0.882	0.160	17	42901026	frameshift variant	GT/-	del			5
rs13306512	LDLR	0.882	0.120	19	11107513	stop gained	C/A;G;T	snv	4.0E-06; 2.0E-05		5
rs200727689	LDLR	0.851	0.120	19	11105408	missense variant	G/A;C;T	snv	8.0E-06		5
rs752935814	LDLR	0.882	0.120	19	11120380	stop gained	G/A;C	snv			5
rs769370816	LDLR	0.882	0.120	19	11116125	missense variant	G/A;T	snv	8.0E-06		5
rs879254538	LDLR	0.851	0.200	19	11105378	frameshift variant	T/-	del			5
rs879254889	LDLR ; MIR6886	0.851	0.120	19	11113570	missense variant	A/G	snv			5