SLC25A4, solute carrier family 25 member 4, 291

N. diseases: 160; N. variants: 12
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 ×
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: rs104893873
rs104893873 		1.000 0.200 4 185144992 missense variant G/C snv
CUI: C1836460
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 7 2000 2016
dbSNP: rs104893874
rs104893874 		1.000 0.200 4 185146939 missense variant G/A snv
CUI: C1836460
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 7 2000 2016
dbSNP: rs104893876
rs104893876 		1.000 0.200 4 185144945 missense variant T/C snv
CUI: C1836460
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 7 2000 2016
dbSNP: rs28999114
rs28999114 		0.925 0.200 4 185144963 missense variant A/G snv
CUI: C1836460
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 7 2000 2016