DisGeNET - a database of gene-disease associations

List of associated variants

Familial Amyloid Neuropathy, Portuguese Type, C0268384

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
rs28933979	TTR	0.587	0.600	18	31592974	missense variant	G/A;C	snv	1.0E-04		70
rs766001707	ATXN3	0.851	0.200	14	92096772	missense variant	C/T	snv			6