DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Neoplastic Syndromes, Hereditary ×

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	9
rs1057519365	BRIP1	0.851	0.320	17	61780931	frameshift variant	TT/-	delins			5
rs587778134	BRIP1	0.851	0.320	17	61776459	frameshift variant	AA/-;AAAA	delins			5
rs1057517648	BRIP1	0.882	0.280	17	61859795	splice donor variant	C/-	delins			4
rs1555603638	BRIP1	0.882	0.280	17	61784425	splice acceptor variant	C/T	snv			4
rs1555609191	BRIP1	0.882	0.280	17	61808545	frameshift variant	A/-	del			4
rs1555616143	BRIP1	0.882	0.280	17	61849155	frameshift variant	TTCTT/-	delins			4
rs368796923	BRIP1	0.882	0.280	17	61799200	stop gained	G/A	snv	4.0E-06	7.0E-06	4
rs575595017	BRIP1	0.882	0.280	17	61859808	stop gained	G/A	snv	1.2E-05		4
rs587780226	BRIP1	0.882	0.280	17	61799125	stop gained	G/A;T	snv	1.2E-05		4
rs587780228	BRIP1	0.882	0.280	17	61793698	stop gained	C/A;G	snv	4.0E-06	2.8E-05	4
rs587780236	BRIP1	0.882	0.280	17	61743118	frameshift variant	-/A	delins	8.0E-06	7.0E-06	4
rs587781292	BRIP1	0.882	0.280	17	61859868	stop gained	C/A;T	snv	4.0E-06		4
rs587781321	BRIP1	0.882	0.280	17	61780325	stop gained	G/A;T	snv	1.6E-05; 2.0E-05		4
rs587781985	BRIP1	0.882	0.280	17	61780342	frameshift variant	-/C	ins	4.0E-06		4
rs587782410	BRIP1	0.882	0.280	17	61685976	stop gained	A/C	snv	1.2E-05	1.4E-05	4
rs587782574	BRIP1	0.882	0.280	17	61743015	stop gained	G/A	snv	4.0E-06	1.4E-05	4
rs730881645	BRIP1	0.882	0.280	17	61683850	frameshift variant	A/-	del	2.0E-05	5.6E-05	4
rs730881649	BRIP1	0.882	0.280	17	61744433	frameshift variant	TT/-	delins	1.2E-05	3.5E-05	4
rs771028677	BRIP1	0.882	0.280	17	61684053	frameshift variant	TGTT/-;TGTTTGTT	delins		2.1E-05	4
rs775171520	BRIP1	0.882	0.280	17	61793727	stop gained	C/A;T	snv	2.4E-05		4
rs775735278	BRIP1	0.882	0.280	17	61784388	frameshift variant	T/-;TT	delins			4
rs780020495	BRIP1	0.882	0.240	17	61780893	stop gained	G/A	snv	2.0E-05		4
rs786203521	BRIP1	0.882	0.280	17	61849195	stop gained	-/T	delins			4
rs786203700	BRIP1	0.882	0.280	17	61857233	splice acceptor variant	T/C	snv	4.0E-06	7.0E-06	4