DisGeNET - a database of gene-disease associations

List of shared variants

Low density lipoprotein increased, C0549399

Disease: Arcus Senilis

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
rs373822756	LDLR	0.807	0.200	19	11105568	missense variant	A/G;T	snv	5.2E-05		8
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
rs879255051	LDLR	0.827	0.120	19	11120091	splice acceptor variant	G/A;C	snv			7
rs137943601	LDLR ; MIR6886	0.851	0.120	19	11113313	missense variant	G/A;C	snv	8.0E-06		6
rs879255193	LDLR	0.851	0.120	19	11129512	splice acceptor variant	G/A;C	snv			6
rs746834464	LDLR	0.882	0.120	19	11110660	stop gained	G/A;T	snv	5.6E-05		5