DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Anemia ×

Variants associated to the Gene: GATA1 ×

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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
rs104894815	GATA1	0.776	0.120	X	48792337	missense variant	G/A	snv			9
rs104894816	GATA1	0.827	0.120	X	48792377	missense variant	A/G	snv			6
rs104894808	GATA1	0.851	0.120	X	48792376	missense variant	G/T	snv			4