SLC25A4, solute carrier family 25 member 4, 291

N. diseases: 160; N. variants: 12
Disease: Chronic progressive external ophthalmoplegia ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28999114
rs28999114 		0.925 0.200 4 185144963 missense variant A/G snv
CUI: C0162674
Disease: Chronic progressive external ophthalmoplegia
Chronic progressive external ophthalmoplegia 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2002 2002