DisGeNET - a database of gene-disease associations

Source: GWASDB

Variants associated to the Disease: Serum total cholesterol measurement ×

Variants associated to the Gene: ABCB11 ×

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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
rs11568373	ABCB11			2	168944893	synonymous variant	T/C	snv	5.8E-03	2.6E-02	3
rs16856314	ABCB11			2	168966582	intron variant	G/A	snv		3.0E-02	3
rs6709971	ABCB11			2	169011063	intron variant	T/C	snv		2.6E-02	3
rs2287623	ABCB11			2	168973645	intron variant	G/A	snv		0.57	1