DisGeNET - a database of gene-disease associations

List of associated variants

Pearson's marrow-pancreas syndrome, C0342784

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
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs113994167	ACADVL	0.882	0.240	17	7222272	missense variant	T/C	snv	1.3E-03	1.1E-03	3
rs753108198	ACADVL	0.925	0.240	17	7222675	frameshift variant	CT/-	del		1.4E-05	2
rs1555528304	ACADVL ; DLG4	0.925	0.240	17	7222037	frameshift variant	CT/-	del			2