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: rs767164213
rs767164213
0.925 0.160 14 67786112 splice donor variant A/C snv 1.6E-05
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2008 2009
dbSNP: rs769329153
rs769329153
0.925 0.160 14 67809291 splice acceptor variant T/C snv 5.2E-05 2.1E-05
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2008 2009
dbSNP: rs370828455
rs370828455
0.925 0.160 14 67782971 stop gained C/T snv 4.0E-06 1.4E-05
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 1981 1981
dbSNP: rs558285072
rs558285072
0.925 0.160 14 67777729 stop gained G/A;C snv 2.4E-05; 4.0E-06
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs200832994
rs200832994
0.925 0.160 14 67807692 stop gained G/A snv 8.0E-06 2.1E-05
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs768366199
rs768366199
1.000 0.080 14 67777597 stop gained G/A snv 7.0E-06
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs774809466
rs774809466
0.925 0.160 14 67783020 stop gained G/A;T snv 4.0E-06
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs878855011
rs878855011
1.000 0.080 14 67785209 frameshift variant G/- delins
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs878855013
rs878855013
1.000 0.080 14 67769731 splice acceptor variant C/- del
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs950356390
rs950356390
1.000 0.080 14 67783037 frameshift variant -/GCCCTTC ins 7.0E-06
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0