DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Liver carcinoma ×

Variants associated to the Gene: ABCB1 ×

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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
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs1128503	ABCB1	0.564	0.760	7	87550285	synonymous variant	A/G	snv	0.54	0.63	64
rs749574370	ABCB1	0.925	0.080	7	87545934	missense variant	T/A;G	snv	4.0E-06; 4.0E-06		2
rs201159898	ABCB1	1.000	0.080	7	87549509	missense variant	T/A;C	snv	1.2E-05	4.9E-05	1
rs28364274	ABCB1	1.000	0.080	7	87504335	missense variant	C/T	snv	4.7E-03	4.6E-03	1
rs45456698	ABCB1	1.000	0.080	7	87504335	missense variant	C/T	snv			1