DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Cardio-facio-cutaneous syndrome ×

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
rs121434498	MAP2K2	0.807	0.280	19	4117553	missense variant	A/C;G;T	snv			6
rs1057519806	MAP2K2	0.882	0.200	19	4110583	missense variant	T/C	snv			3
rs121434497	MAP2K2	0.925	0.160	19	4117552	missense variant	A/C;T	snv			2
rs121434499	MAP2K2	0.925	0.160	19	4110559	missense variant	A/G	snv			2
rs267607230	MAP2K2	0.925	0.160	19	4110576	missense variant	G/A;C;T	snv			2
rs727504370	MAP2K2	0.925	0.200	19	4110558	missense variant	T/C	snv			2
rs727504382	MAP2K2	0.925	0.200	19	4101105	missense variant	C/T	snv			2
rs730880517	MAP2K2	1.000	0.160	19	4117541	missense variant	T/C	snv			1