DisGeNET - a database of gene-disease associations

Source: BEFREE

Variants associated to the Disease: Prostate carcinoma ×

Variants associated to the Gene: BRCA2 ×

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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
rs11571833	BRCA2	0.608	0.360	13	32398489	stop gained	A/T	snv	6.6E-03	6.0E-03	31
rs765436962	BRCA2	0.851	0.120	13	32332790	missense variant	G/T	snv	1.6E-05		4
rs28897749	BRCA2	0.882	0.120	13	32363384	missense variant	G/A;C	snv	2.1E-03; 4.0E-06		2
rs398122729	BRCA2	0.851	0.240	13	32333120	stop gained	C/T	snv			2
rs41293489	BRCA2	0.851	0.240	13	32338566	stop gained	C/A;G;T	snv	1.3E-05		2
rs80358814	BRCA2	0.742	0.440	13	32340212	stop gained	G/T	snv	8.0E-06		2