DisGeNET - a database of gene-disease associations

Source: CURATED

Variants associated to the Disease: Malignant neoplasm of prostate ×

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
rs28897672	BRCA1	0.732	0.280	17	43106487	missense variant	A/C;G;T	snv	3.2E-05		10
rs80357382	BRCA1	0.763	0.240	17	43106457	missense variant	T/C	snv	4.0E-06		7
rs80357796	BRCA1	0.752	0.240	17	43094464	frameshift variant	T/-	del			1
rs886040226	BRCA1	0.882	0.080	17	43082412	stop gained	G/A;C	snv			1