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
rs10455872	LPA	0.662	0.320	6	160589086	intron variant	A/G	snv		4.3E-02	33
rs104894502	TPM1	0.807	0.120	15	63060915	missense variant	A/G;T	snv			6
rs104894503	TPM1	0.776	0.160	15	63060899	missense variant	G/A	snv	1.6E-05	2.8E-05	9
rs104894724	TNNI3	0.790	0.120	19	55154146	missense variant	G/A;C	snv	4.0E-06		8
rs1057516127	LDLR	0.925	0.080	19	11123200	stop gained	G/T	snv		7.0E-06	4
rs1057516128	MIR6886 ; LDLR	1.000	0.080	19	11113584	missense variant	A/G	snv			1
rs1057516129	LDLR	1.000	0.080	19	11102706	frameshift variant	G/-	del			1
rs1057516130	LDLR	1.000	0.080	19	11107479	frameshift variant	G/-	del			1
rs1057516132	LDLR	0.925	0.080	19	11105245	frameshift variant	TTTCG/-	delins			2
rs1057516133	LDLR	1.000	0.080	19	11105275	frameshift variant	-/C	delins			1
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
rs1057519647	LDLR	1.000	0.080	19	11089381	upstream gene variant	A/G	snv			1
rs1057519648	LDLR	1.000	0.080	19	11089394	upstream gene variant	ACCCCA/-	del			1
rs1057519649	LDLR	1.000	0.080	19	11089422	upstream gene variant	-/A	delins			1
rs1057519650	LDLR	1.000	0.080	19	11089450	upstream gene variant	A/G	snv			1
rs1057519652	LDLR	1.000	0.080	19	11102675	missense variant	T/C	snv			1
rs1057519653	LDLR	1.000	0.080	19	11102715	frameshift variant	-/TGCATTC	delins			1
rs1057519654	LDLR	1.000	0.080	19	11105233	stop gained	C/A	snv			1
rs1057519655	LDLR	1.000	0.080	19	11105516	missense variant	T/C;G	snv	4.0E-06		2
rs1057519657	LDLR	1.000	0.080	19	11105564	frameshift variant	-/CGACTGC	delins			1
rs1057519659	LDLR	1.000	0.080	19	11105579	frameshift variant	AATCTGACGA/-	delins			1
rs1057519660	LDLR	1.000	0.080	19	11105583	frameshift variant	ACGAGGAAAACTG/-	delins			1
rs1057519661	LDLR	0.882	0.080	19	11105587	frameshift variant	C/-	del			5
rs1057519662	LDLR	1.000	0.080	19	11105570	frameshift variant	-/CAAGGACAAATCTGACG	delins			1