DisGeNET - a database of gene-disease associations

List of associated variants

Hypobetalipoproteinemias, C0020597

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
rs3816873	MTTP	0.790	0.200	4	99583507	missense variant	T/C	snv	0.25	0.26	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
rs1334979946	DOCK7 ; ANGPTL3	0.925	0.080	1	62604068	missense variant	A/C	snv			2
rs143301836	APOB	1.000	0.080	2	21037162	stop gained	G/A;T	snv			1
rs1553382678	APOB	1.000	0.080	2	21004651	frameshift variant	CT/-	delins			1
rs756209187	APOB	1.000	0.080	2	21006630	frameshift variant	G/-	del	4.0E-06	2.8E-05	1
rs797045253	APOB	1.000	0.080	2	21002397	frameshift variant	G/-	delins			1
rs61750974	MTTP	1.000	0.080	4	99591235	missense variant	G/A	snv	1.0E-02	7.8E-03	1
rs554488891	PCSK9	1.000	0.080	1	55056139	missense variant	G/A;T	snv	5.0E-06; 1.0E-05		1