DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Mammary Neoplasms ×

Variants associated to the Gene: PALB2 ×

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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
rs587776416	PALB2	0.882	0.240	16	23629986	frameshift variant	AT/-	del	6.4E-05	2.1E-05	5
rs876659036	PALB2	1.000	0.080	16	23622997	stop gained	C/A;G	snv	8.0E-06; 8.0E-06		3
rs1555460315	PALB2	1.000	0.080	16	23629673	frameshift variant	GT/-	delins			2
rs1555458822	PALB2			16	23614062	frameshift variant	T/-	delins			1
rs1555461693	PALB2			16	23635903	stop gained	C/A	snv			1