DisGeNET - a database of gene-disease associations

Source: UNIPROT

Variants associated to the Disease: Leukemia, Myelocytic, Acute ×

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
rs121913506	KIT	0.677	0.320	4	54733154	missense variant	G/A;C;T	snv			2
rs121913507	KIT	0.614	0.400	4	54733155	missense variant	A/T	snv			2
rs1057519709	KIT	0.925	0.080	4	54733154	missense variant	GA/AT	mnv			1
rs121913514	KIT	0.763	0.240	4	54733174	missense variant	T/A;G	snv			1