DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Dysmorphic features ×

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
rs121908595	MAP2K1	0.827	0.280	15	66436843	missense variant	A/G	snv	4.0E-06		8
rs397516793	MAP2K1	0.925	0.160	15	66436842	missense variant	T/C	snv			2