DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Ulcerative Colitis ×

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
rs2032582	ABCB1	0.538	0.800	7	87531302	missense variant	A/C;T	snv	0.54; 3.8E-02		97
rs1128503	ABCB1	0.564	0.760	7	87550285	synonymous variant	A/G	snv	0.54	0.63	64
rs3789243	ABCB1	0.776	0.120	7	87591570	intron variant	A/G	snv		0.50	14
rs1289543302	ABCB1	0.763	0.440	7	87536472	missense variant	C/T	snv			12
rs1922242	ABCB1	0.827	0.120	7	87544351	intron variant	A/T	snv		0.43	8
rs2235035	ABCB1	0.925	0.040	7	87549770	intron variant	G/A	snv		0.29	2
rs2235046	ABCB1	0.925	0.040	7	87544750	intron variant	T/A;C;G	snv			2