DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Malignant neoplasm of ovary ×

Variants associated to the Gene: BRIP1 ×

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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
rs137852986	BRIP1	0.732	0.440	17	61716051	stop gained	G/A	snv	1.7E-04	1.5E-04	13
rs4988344	BRIP1	0.882	0.120	17	61847251	intron variant	G/C	snv	0.20	0.15	4
rs2191249	BRIP1	0.882	0.120	17	61758503	intron variant	T/G	snv		0.79	3
rs1064795649	BRIP1	1.000	0.120	17	61799205	frameshift variant	CT/-	delins			2
rs34289250	BRIP1	0.925	0.120	17	61803285	intron variant	T/C	snv		7.8E-03	2
rs1199923024	BRIP1	1.000	0.120	17	61683945	missense variant	G/A	snv	1.6E-05	7.0E-06	1
rs12937080	BRIP1	1.000	0.120	17	61852376	intron variant	A/G;T	snv			1