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	AF GENOME	Num. diseases
rs875989897	LDLR	0.925	0.080	19	11102787	splice donor variant	-/T	delins			4
rs875989903	LDLR	0.925	0.080	19	11105553	frameshift variant	-/T	delins			4
rs879254701	LDLR	0.925	0.080	19	11107448	frameshift variant	-/T	delins			4
rs1057519690	LDLR	1.000	0.080	19	11129604	frameshift variant	-/T	delins			1
rs1555808044	LDLR	0.925	0.080	19	11123211	frameshift variant	-/TCAGG	delins			3
rs879255088	LDLR	0.925	0.080	19	11120203	frameshift variant	-/TCTTC	delins			2
rs879254599	LDLR	0.925	0.080	19	11105529	frameshift variant	-/TG	delins			3
rs869320649	LDLR	1.000	0.080	19	11105566	frameshift variant	-/TG	ins			1
rs1555803427	LDLR	0.925	0.080	19	11105587	stop gained	-/TGAG	ins			2
rs879254618	LDLR	1.000	0.080	19	11105578	frameshift variant	-/TGCAA	delins	4.0E-06		1
rs1057519653	LDLR	1.000	0.080	19	11102715	frameshift variant	-/TGCATTC	delins			1
rs774615547	LDLR	1.000	0.080	19	11089562	frameshift variant	-/TTCCT	delins	4.0E-06		1
rs1555804717	LDLR ; MIR6886	0.882	0.120	19	11111523	frameshift variant	A/-	del			4
rs751122998	LDLR	0.882	0.080	19	11107394	frameshift variant	A/-	del	4.0E-06	7.0E-06	3
rs879254580	LDLR	0.925	0.080	19	11105484	frameshift variant	A/-	del			3
rs879254786	LDLR ; MIR6886	0.925	0.080	19	11111538	frameshift variant	A/-	del			3
rs1057516134	LDLR	0.925	0.080	19	11120123	frameshift variant	A/-	delins			2
rs1057516135	LDLR	0.925	0.080	19	11105372	frameshift variant	A/-	delins			2
rs879254872	LDLR ; MIR6886	0.925	0.080	19	11113434	frameshift variant	A/-	del			2
rs879254964	LDLR	0.925	0.080	19	11116137	frameshift variant	A/-	delins			2
rs1555803481	LDLR	1.000	0.080	19	11105589	frameshift variant	A/-	del			1
rs6180	GHR	0.827	0.160	5	42719137	missense variant	A/C	snv	0.44	0.43	6
rs879254667	LDLR	0.882	0.080	19	11106631	missense variant	A/C	snv			5
rs730882098	MIR6886 ; LDLR	0.925	0.080	19	11111586	missense variant	A/C	snv	8.0E-06		4
rs773693079	LDLR	0.925	0.080	19	11120221	missense variant	A/C	snv			4