DisGeNET - a database of gene-disease associations

List of associated variants

Leukemia, Mast-Cell, C0023461

Source: UNIPROT ×

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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