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: rs370828455
rs370828455
0.925 0.160 14 67782971 stop gained C/T snv 4.0E-06 1.4E-05
Spastic paraplegia 15, autosomal recessive
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016