DisGeNET - a database of gene-disease associations

List of associated variants

Hereditary Breast and Ovarian Cancer Syndrome, C0677776

Source: ALL

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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
rs180177135	PALB2	0.716	0.520	16	23607891	frameshift variant	T/-	del		2.1E-05	27
rs118203998	PALB2	0.790	0.400	16	23603471	stop gained	G/C;T	snv	1.6E-05; 4.0E-06		11
rs180177132	PALB2	0.790	0.280	16	23621362	stop gained	C/T	snv	6.0E-05	2.1E-05	11
rs180177100	PALB2	0.827	0.400	16	23635306	stop gained	G/A	snv	8.0E-06	1.4E-05	6
rs587776416	PALB2	0.882	0.240	16	23629986	frameshift variant	AT/-	del	6.4E-05	2.1E-05	5
rs180177110	PALB2	0.882	0.200	16	23629897	stop gained	G/A;T	snv	2.4E-05		4
rs786203714	PALB2	0.925	0.200	16	23635095	stop gained	A/T	snv			4
rs1555460445	PALB2	0.925	0.200	16	23629936	stop gained	G/A	snv			3
rs180177083	PALB2	0.925	0.200	16	23637865	stop gained	G/A;T	snv	8.0E-06; 4.0E-06		3
rs180177126	PALB2	0.925	0.200	16	23623044	frameshift variant	TT/-	delins			3
rs375699023	PALB2	0.925	0.200	16	23635504	stop gained	G/A;T	snv	4.0E-05		3
rs767633741	PALB2	0.925	0.200	16	23626377	frameshift variant	G/-;GG	delins			3
rs786203821	PALB2	0.925	0.200	16	23635606	stop gained	G/A	snv		1.4E-05	3
rs1555461618	PALB2	0.925	0.200	16	23635743	frameshift variant	-/TA	delins			2
rs1555461870	PALB2	0.925	0.200	16	23636317	frameshift variant	AT/-	delins			2
rs587782337	PALB2	1.000	0.200	16	23607925	frameshift variant	GGTT/NNNNNNNN;TCATTAAC	delins			2
rs1555461602	PALB2	1.000	0.200	16	23635714	frameshift variant	GTCG/-	delins			1
rs80357783	NBR2 ; BRCA1	0.851	0.200	17	43124030	frameshift variant	-/T	delins	4.0E-06		6
rs80357287	NBR2 ; BRCA1	0.882	0.200	17	43124096	start lost	T/C	snv			5
rs80357438	NBR2 ; BRCA1	0.851	0.200	17	43124032	stop gained	A/G;T	snv			5
rs80357134	NBR2 ; BRCA1	0.882	0.200	17	43124063	stop gained	G/A	snv	4.0E-06	7.0E-06	3
rs80357530	NBR2 ; BRCA1	0.925	0.200	17	43124057	frameshift variant	CATT/-	del			3
rs730881457	NBR2 ; BRCA1	0.925	0.200	17	43124052	frameshift variant	A/-;AA	delins			2
rs767454740	NBN	0.882	0.320	8	89982736	frameshift variant	AA/-	delins		7.0E-06	4
rs1554568427	NBN	0.925	0.240	8	89981520	stop gained	G/A	snv			2