DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Familial (FPAH) ×

Variants associated to the Gene: BRCA1 ×

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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
rs748876625	BRCA1	0.807	0.160	17	43104122	missense variant	C/A;G	snv	1.2E-05		10
rs80357033	BRCA1	0.925	0.200	17	43106467	missense variant	A/C;G	snv			2