DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Cutaneous Melanoma ×

Variants associated to the Gene: CDK4 ×

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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
rs11547328	CDK4	0.701	0.360	12	57751648	missense variant	G/A;T	snv	4.0E-06		6
rs104894340	CDK4	0.827	0.200	12	57751647	missense variant	C/A;T	snv			5