DisGeNET - a database of gene-disease associations

Source: UNIPROT

Variants associated to the Gene: NDUFA1 ×

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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
rs104894884	NDUFA1 ; RNF113A	0.882	0.040	X	119871933	missense variant	G/C	snv			1
rs104894885	NDUFA1 ; RNF113A	0.851	0.120	X	119873312	missense variant	G/A;C	snv			1
rs1257734702	RNF113A ; NDUFA1	1.000	0.080	X	119873358	missense variant	C/T	snv		9.6E-06	1