DisGeNET - a database of gene-disease associations

List of associated variants

Acanthocytosis With Hypobetalipoproteinemia, C4551990

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
rs144467873	APOB	0.776	0.120	2	21006289	missense variant	G/A	snv	1.7E-04	6.3E-05	9
rs771541567	APOB	0.851	0.120	2	21029900	missense variant	G/A;T	snv	8.0E-06; 2.0E-05		4
rs1057518647	APOB	0.925	0.080	2	21019728	frameshift variant	CCCGGTC/-	delins			2
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
rs1553384177	APOB	0.925	0.040	2	21013287	stop gained	G/C;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
rs766243954	APOB	0.925	0.080	2	21038086	stop gained	C/A	snv		7.0E-06	2
rs121918388	APOB	1.000	0.040	2	21010033	stop gained	G/A;T	snv	4.0E-06		1
rs121918391	APOB	1.000	0.040	2	21015169	stop gained	A/T	snv			1
rs1399892057	APOB	1.000	0.040	2	21028066	splice acceptor variant	C/T	snv			1
rs1553383931	APOB	1.000	0.040	2	21011751	frameshift variant	-/T	delins			1
rs878853970	APOB	1.000	0.040	2	21028484	stop gained	G/A	snv		7.0E-06	1
rs878853973	APOB	1.000	0.040	2	21007345	frameshift variant	C/-	del			1