DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Malignant neoplasm of breast ×

Variants associated to the Gene: GATA3 ×

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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
rs570613	GATA3	0.925	0.080	10	8064539	intron variant	C/T	snv		0.60	5
rs3802604	GATA3	0.882	0.200	10	8060309	intron variant	G/A	snv		0.51	4
rs1211413464	GATA3	0.925	0.080	10	8069546	missense variant	C/A;G	snv	4.0E-06; 4.0E-06		2