DisGeNET - a database of gene-disease associations

List of associated variants

FANCONI ANEMIA, COMPLEMENTATION GROUP N, C1835817

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
rs180177133	PALB2	0.807	0.240	16	23614089	frameshift variant	T/-	delins	1.2E-05	1.4E-05	9
rs180177100	PALB2	0.827	0.400	16	23635306	stop gained	G/A	snv	8.0E-06	1.4E-05	6
rs180177092	PALB2	0.851	0.280	16	23635788	frameshift variant	AG/-	delins			5
rs118203999	PALB2	0.925	0.200	16	23623003	stop gained	G/A	snv			4
rs587776419	PALB2	0.882	0.200	16	23624008	splice donor variant	C/A;G;T	snv			4
rs757369748	PALB2	0.882	0.200	16	23638072	stop gained	G/A;T	snv	4.0E-06		4
rs118203997	PALB2	1.000	0.120	16	23634893	stop gained	A/G;T	snv			2
rs180177085	PALB2	0.925	0.200	16	23636151	frameshift variant	A/-	del	8.0E-06		2
rs515726073	PALB2	1.000	0.120	16	23634869	frameshift variant	TT/C;T	delins			2
rs180177113	PALB2	1.000	0.120	16	23629760	frameshift variant	-/AG	ins			1
rs180177116	PALB2	1.000	0.120	16	23629269	frameshift variant	T/-	delins			1