Disease: Spastic Paraplegia 39, Autosomal Recessive ×
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: rs121434415
rs121434415 		1.000 0.080 19 7556507 missense variant A/G snv 7.0E-06
CUI: C2677586
Disease: Spastic Paraplegia 39, Autosomal Recessive
Spastic Paraplegia 39, Autosomal Recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 2 2008 2014
dbSNP: rs121434416
rs121434416 		1.000 0.080 19 7555041 missense variant G/A snv
CUI: C2677586
Disease: Spastic Paraplegia 39, Autosomal Recessive
Spastic Paraplegia 39, Autosomal Recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 2 2008 2014
dbSNP: rs587777184
rs587777184 		1.000 0.080 19 7540675 missense variant G/A snv
CUI: C2677586
Disease: Spastic Paraplegia 39, Autosomal Recessive
Spastic Paraplegia 39, Autosomal Recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 2 2008 2014
dbSNP: rs587777185
rs587777185 		1.000 0.080 19 7554578 missense variant G/A snv
CUI: C2677586
Disease: Spastic Paraplegia 39, Autosomal Recessive
Spastic Paraplegia 39, Autosomal Recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 2 2008 2014
dbSNP: rs606231167
rs606231167 		0.882 0.360 19 7555724 frameshift variant -/AGCC delins
CUI: C2677586
Disease: Spastic Paraplegia 39, Autosomal Recessive
Spastic Paraplegia 39, Autosomal Recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 3 2008 2015
dbSNP: rs1490826010
rs1490826010 		1.000 0.080 19 7560765 splice donor variant G/A snv 1.6E-05 7.0E-06
CUI: C2677586
Disease: Spastic Paraplegia 39, Autosomal Recessive
Spastic Paraplegia 39, Autosomal Recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs1060502664
rs1060502664 		1.000 0.080 19 7561219 frameshift variant G/- del
CUI: C2677586
Disease: Spastic Paraplegia 39, Autosomal Recessive
Spastic Paraplegia 39, Autosomal Recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1555749683
rs1555749683 		1.000 0.080 19 7554210 frameshift variant -/C delins
CUI: C2677586
Disease: Spastic Paraplegia 39, Autosomal Recessive
Spastic Paraplegia 39, Autosomal Recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1555751597
rs1555751597 		1.000 0.080 19 7558955 stop gained G/A snv
CUI: C2677586
Disease: Spastic Paraplegia 39, Autosomal Recessive
Spastic Paraplegia 39, Autosomal Recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs756542477
rs756542477 		1.000 0.080 19 7554572 frameshift variant T/- del 8.0E-06 2.1E-05
CUI: C2677586
Disease: Spastic Paraplegia 39, Autosomal Recessive
Spastic Paraplegia 39, Autosomal Recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs756591718
rs756591718 		1.000 0.080 19 7557187 frameshift variant G/- del 4.0E-06 3.5E-05
CUI: C2677586
Disease: Spastic Paraplegia 39, Autosomal Recessive
Spastic Paraplegia 39, Autosomal Recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs773955314
rs773955314 		0.925 0.360 19 7557242 missense variant G/A;C snv 3.2E-05 2.1E-05
CUI: C2677586
Disease: Spastic Paraplegia 39, Autosomal Recessive
Spastic Paraplegia 39, Autosomal Recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0