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: rs61755320
rs61755320
0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03
CUI: C3711370
Disease: Spastic Paraplegia Type 7
Spastic Paraplegia Type 7
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs770661102
rs770661102
0.882 0.120 16 89556924 missense variant A/C;G snv 4.4E-05
CUI: C3711370
Disease: Spastic Paraplegia Type 7
Spastic Paraplegia Type 7
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2019 2019