DisGeNET - a database of gene-disease associations

Source: UNIPROT

Variants associated to the Disease: Adenocarcinoma of large intestine ×

Variants associated to the Gene: KIT ×

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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
rs145602440	KIT	1.000	0.080	4	54733118	missense variant	C/T	snv	1.2E-05	7.0E-06	1
rs751005114	KIT	1.000	0.080	4	54731395	missense variant	G/A	snv	8.0E-06	7.0E-06	1