DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Mammary Neoplasms ×

Variant: rs80357580 ×

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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
rs80357580	BRCA1	0.925	0.200	17	43067649	stop gained	GTTA/-;GTTAGTTA	delins		7.0E-06	4