DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: melanoma ×

Variants associated to the Gene: MAP2K2 ×

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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
rs1057519806	MAP2K2	0.882	0.200	19	4110583	missense variant	T/C	snv			3
rs1057519807	MAP2K2	1.000	0.040	19	4110586	missense variant	A/T	snv			1
rs1057519808	MAP2K2	1.000	0.040	19	4117543	missense variant	T/G	snv			1
rs1057519809	MAP2K2	1.000	0.040	19	4117586	missense variant	G/A;C	snv	4.0E-06		1
rs1057519810	MAP2K2	1.000	0.040	19	4117619	missense variant	C/A;T	snv	4.0E-06		1