DisGeNET - a database of gene-disease associations

List of associated variants

Source: UNIPROT ×

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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
rs387906631	GATA2	0.882	0.080	3	128481901	missense variant	G/A	snv			2
rs387906629	GATA2	0.925	0.080	3	128481270	missense variant	G/A	snv			1