DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 ×

Variants associated to the Gene: ATP5F1D ×

Results per page

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
rs867410737	ATP5F1D	0.708	0.440	19	1242559	missense variant	C/T	snv	6.7E-06		42
rs1555745989	ATP5F1D	0.925	0.040	19	1244118	missense variant	T/G	snv			2