DisGeNET - a database of gene-disease associations

List of associated variants

Ataxia Neuropathy Spectrum, C3683791

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
rs113994097	POLG	0.724	0.400	15	89323426	missense variant	C/G	snv	9.7E-04	7.9E-04	22
rs2307441	POLG	0.882	0.080	15	89318595	missense variant	T/C	snv	2.9E-02	2.7E-02	6