DisGeNET - a database of gene-disease associations

Source: BEFREE

Variants associated to the Disease: Colorectal 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
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
rs979090956	ABCB1	0.827	0.200	7	87553822	missense variant	G/C	snv			5
rs1202168	ABCB1	1.000	0.080	7	87566646	intron variant	G/A	snv		0.39	1
rs868755	ABCB1	1.000	0.080	7	87560614	intron variant	T/G	snv		0.68	1