DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Cutaneous Melanoma ×

Variants associated to the Gene: MAP2K1 ×

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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
rs869025608	MAP2K1	0.763	0.400	15	66435117	missense variant	G/C;T	snv			9
rs1057519732	MAP2K1	0.827	0.160	15	66436824	missense variant	C/A;T	snv			6
rs1057519909	MAP2K1	0.790	0.240	15	66435116	missense variant	A/C	snv			6
rs397516792	MAP2K1	0.827	0.280	15	66436825	missense variant	C/A;G;T	snv			6
rs1057519728	MAP2K1	0.851	0.120	15	66435103	missense variant	T/A;C;G	snv			5
rs1057519908	MAP2K1	0.882	0.120	15	66435105	missense variant	T/G	snv			4