DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Cutaneous Melanoma ×

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
rs121913512	KIT	0.851	0.120	4	54728055	missense variant	A/C;G	snv			6
rs1057519907	KIT	0.925	0.120	4	54728057	missense variant	A/C	snv			2