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: rs199476133
rs199476133
0.742 0.320 MT 8993 missense variant T/C;G snv
Neuropathy ataxia and retinis pigmentosa
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 5 1990 1994
dbSNP: rs387906423
rs387906423
1.000 0.200 MT 8617 frameshift variant -/T delins
Neuropathy ataxia and retinis pigmentosa
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0