DisGeNET - a database of gene-disease associations

Source: GWASDB

Variants associated to the Disease: High density lipoprotein measurement ×

Variants associated to the Gene: APOB ×

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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
rs673548	APOB	0.925	0.120	2	21014672	intron variant	G/A;T	snv			10
rs1042034	APOB	0.851	0.240	2	21002409	missense variant	C/T	snv	0.70	0.78	7
rs2678379	APOB	1.000	0.080	2	21003688	intron variant	A/G	snv		0.76	7
rs676210	APOB	0.925	0.120	2	21008652	missense variant	G/A;T	snv	0.29		7
rs693	APOB	0.708	0.440	2	21009323	synonymous variant	G/A	snv	0.39	0.38	7
rs533617	APOB			2	21011100	missense variant	T/C	snv	3.1E-02	2.9E-02	6
rs1041968	APOB			2	21009932	synonymous variant	G/A	snv	0.39	0.38	4