DisGeNET - a database of gene-disease associations

List of associated variants

Hyperlipoproteinemia Type IIb, C1704417

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
rs5742904	APOB	0.689	0.280	2	21006288	missense variant	C/A;T	snv	2.8E-04	7.3E-04	22
rs12713559	APOB	0.776	0.120	2	21006196	missense variant	G/A	snv	3.4E-04	5.0E-04	10
rs144467873	APOB	0.776	0.120	2	21006289	missense variant	G/A	snv	1.7E-04	6.3E-05	9
rs200222843	APOB	0.851	0.120	2	21003286	missense variant	G/A	snv	4.0E-05	4.2E-05	4
rs1215189537	APOB	0.925	0.080	2	21007749	frameshift variant	AAAGA/-	delins	4.0E-06		2
rs1553383473	APOB	0.925	0.080	2	21009263	stop gained	G/T	snv			2
rs1558560212	APOB	0.925	0.080	2	21004676	splice acceptor variant	C/G	snv			2
rs1558564161	APOB	0.925	0.080	2	21010325	frameshift variant	A/-	delins			2
rs368825685	APOB	0.925	0.080	2	21012365	stop gained	A/C;G	snv	4.0E-06; 1.2E-05		2
rs562574661	APOB	0.925	0.080	2	21001940	inframe deletion	CTG/-	delins		2.2E-04	2
rs766243954	APOB	0.925	0.080	2	21038086	stop gained	C/A	snv		7.0E-06	2
rs757808215	LDLR	0.925	0.080	19	11106640	missense variant	G/A;C;T	snv	2.0E-05		2
rs1553383017	APOB	1.000	0.080	2	21006682	missense variant	C/T	snv			1
rs730880052	APOB	1.000	0.080	2	21006681	missense variant	G/T	snv			1
rs779283285	APOB	1.000	0.080	2	21006393	missense variant	A/G	snv	1.6E-05	2.1E-05	1
rs929536329	LDLR	1.000	0.080	19	11105277	missense variant	G/A	snv			1