DisGeNET - a database of gene-disease associations

List of associated variants

Hyperlipoproteinemia Type IIa, C0745103

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
rs1057519663	LDLR	1.000	0.080	19	11106653	stop gained	C/A;T	snv	8.0E-06	1
rs1057519664	LDLR	1.000	0.080	19	11107498	missense variant	A/T	snv		1
rs1057519665	LDLR	1.000	0.080	19	11107510	splice donor variant	GGTGAGTCTCGGTGC/-	delins		2
rs1057519666	LDLR	1.000	0.080	19	11107513	splice donor variant	-/G	delins		1
rs1057519667	MIR6886 ; LDLR	0.851	0.120	19	11113277	splice acceptor variant	G/-	delins		4
rs1057519668	LDLR ; MIR6886	1.000	0.080	19	11113296	missense variant	T/C	snv		1
rs1057519669	MIR6886 ; LDLR	0.925	0.080	19	11113347	missense variant	A/G	snv		4
rs1057519670	MIR6886 ; LDLR	0.925	0.080	19	11113406	missense variant	A/T	snv		4
rs1057519671	MIR6886 ; LDLR	1.000	0.080	19	11113421	frameshift variant	T/-	del		1
rs1057519672	MIR6886 ; LDLR	1.000	0.080	19	11113654	frameshift variant	C/-	del		1
rs1057519673	LDLR ; MIR6886	0.925	0.080	19	11113705	frameshift variant	C/-	del		4
rs1057519674	MIR6886 ; LDLR	1.000	0.080	19	11113746	frameshift variant	TG/-	delins		1
rs1057519675	LDLR	1.000	0.080	19	11116891	missense variant	T/C	snv		1
rs1057519676	LDLR	1.000	0.080	19	11116926	frameshift variant	CG/T	delins		1
rs1057519677	LDLR	0.925	0.080	19	11120099	missense variant	T/G	snv		4
rs1057519679	LDLR	1.000	0.080	19	11120223	frameshift variant	GCCA/-	delins		1
rs1057519680	LDLR	1.000	0.080	19	11120228	missense variant	C/T	snv		1
rs1057519682	LDLR	0.925	0.080	19	11120458	frameshift variant	-/A	delins		2
rs1057519683	LDLR	1.000	0.080	19	11120466	frameshift variant	C/-	delins		1
rs1057519684	LDLR	1.000	0.080	19	11120507	missense variant	A/G	snv		1
rs1057519685	LDLR	1.000	0.080	19	11120514	frameshift variant	-/C	delins		1
rs1057519687	LDLR	1.000	0.080	19	11123326	frameshift variant	GACAATGT/-	delins		1
rs1057519690	LDLR	1.000	0.080	19	11129604	frameshift variant	-/T	delins		1
rs1060499919	LDLR	1.000	0.080	19	11105435	missense variant	T/C	snv		2
rs1060499921	MIR6886 ; LDLR	0.925	0.120	19	11111630	missense variant	A/C	snv		3