DisGeNET - a database of gene-disease associations

Source: BEFREE

Variants associated to the Disease: Colorectal Carcinoma ×

Variants associated to the Gene: CDH1 ×

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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
rs16260	CDH1	0.716	0.440	16	68737131	upstream gene variant	C/A	snv		0.24	18
rs9929218	CDH1	0.732	0.160	16	68787043	intron variant	G/A	snv		0.28	8
rs7198799	CDH1	0.882	0.120	16	68784487	intron variant	C/T	snv		0.27	3
rs9939049	CDH1	0.790	0.080	16	68778398	intron variant	A/T	snv		0.29	1