Disease: Spastic paraplegia 15, 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: rs545219731
rs545219731 		1.000 0.120 14 67802283 splice acceptor variant C/T snv 8.0E-06 7.0E-06
CUI: C1849128
Disease: Spastic paraplegia 15, autosomal recessive
Spastic paraplegia 15, autosomal recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs746606852
rs746606852 		1.000 0.120 14 67794240 splice acceptor variant C/G snv 8.0E-06
CUI: C1849128
Disease: Spastic paraplegia 15, autosomal recessive
Spastic paraplegia 15, autosomal recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs760001730
rs760001730 		1.000 0.120 14 67809198 splice donor variant A/C snv 4.0E-06
CUI: C1849128
Disease: Spastic paraplegia 15, autosomal recessive
Spastic paraplegia 15, autosomal recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs760559263
rs760559263 		1.000 0.120 14 67790774 splice acceptor variant C/G snv 4.0E-06
CUI: C1849128
Disease: Spastic paraplegia 15, autosomal recessive
Spastic paraplegia 15, autosomal recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs767164213
rs767164213 		0.925 0.160 14 67786112 splice donor variant A/C snv 1.6E-05
CUI: C1849128
Disease: Spastic paraplegia 15, autosomal recessive
Spastic paraplegia 15, autosomal recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs769329153
rs769329153 		0.925 0.160 14 67809291 splice acceptor variant T/C snv 5.2E-05 2.1E-05
CUI: C1849128
Disease: Spastic paraplegia 15, autosomal recessive
Spastic paraplegia 15, autosomal recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs771393692
rs771393692 		1.000 0.120 14 67752458 frameshift variant G/- del 4.0E-06
CUI: C1849128
Disease: Spastic paraplegia 15, autosomal recessive
Spastic paraplegia 15, autosomal recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs868672014
rs868672014 		1.000 0.120 14 67767779 frameshift variant T/- del 1.4E-05
CUI: C1849128
Disease: Spastic paraplegia 15, autosomal recessive
Spastic paraplegia 15, autosomal recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs869312914
rs869312914 		1.000 0.120 14 67752520 stop gained G/A snv
CUI: C1849128
Disease: Spastic paraplegia 15, autosomal recessive
Spastic paraplegia 15, autosomal recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs935301743
rs935301743 		1.000 0.120 14 67809199 splice donor variant C/T snv
CUI: C1849128
Disease: Spastic paraplegia 15, autosomal recessive
Spastic paraplegia 15, autosomal recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1049504575
rs1049504575 		1.000 0.120 14 67754069 splice donor variant A/T snv 4.0E-06 1.4E-05
CUI: C1849128
Disease: Spastic paraplegia 15, autosomal recessive
Spastic paraplegia 15, autosomal recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs1057518016
rs1057518016 		1.000 0.120 14 67797750 stop gained G/A snv 4.0E-06
CUI: C1849128
Disease: Spastic paraplegia 15, autosomal recessive
Spastic paraplegia 15, autosomal recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs118204049
rs118204049 		1.000 0.120 14 67782840 stop gained G/A snv 1.2E-05 2.8E-05
CUI: C1849128
Disease: Spastic paraplegia 15, autosomal recessive
Spastic paraplegia 15, autosomal recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2008 2008
dbSNP: rs1214483973
rs1214483973 		1.000 0.120 14 67775866 stop gained G/A snv 4.0E-06
CUI: C1849128
Disease: Spastic paraplegia 15, autosomal recessive
Spastic paraplegia 15, autosomal recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs200832994
rs200832994 		0.925 0.160 14 67807692 stop gained G/A snv 8.0E-06 2.1E-05
CUI: C1849128
Disease: Spastic paraplegia 15, autosomal recessive
Spastic paraplegia 15, autosomal recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs370828455
rs370828455 		0.925 0.160 14 67782971 stop gained C/T snv 4.0E-06 1.4E-05
CUI: C1849128
Disease: Spastic paraplegia 15, autosomal recessive
Spastic paraplegia 15, autosomal recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs558285072
rs558285072 		0.925 0.160 14 67777729 stop gained G/A;C snv 2.4E-05; 4.0E-06
CUI: C1849128
Disease: Spastic paraplegia 15, autosomal recessive
Spastic paraplegia 15, autosomal recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs768176054
rs768176054 		1.000 0.120 14 67793711 frameshift variant A/- delins 1.4E-05
CUI: C1849128
Disease: Spastic paraplegia 15, autosomal recessive
Spastic paraplegia 15, autosomal recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs941230062
rs941230062 		1.000 0.120 14 67794234 stop gained G/A;C snv
CUI: C1849128
Disease: Spastic paraplegia 15, autosomal recessive
Spastic paraplegia 15, autosomal recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs774809466
rs774809466 		0.925 0.160 14 67783020 stop gained G/A;T snv 4.0E-06
CUI: C1849128
Disease: Spastic paraplegia 15, autosomal recessive
Spastic paraplegia 15, autosomal recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 2 2014 2016
dbSNP: rs981804211
rs981804211 		1.000 0.120 14 67798080 stop gained G/A;T snv 7.0E-06
CUI: C1849128
Disease: Spastic paraplegia 15, autosomal recessive
Spastic paraplegia 15, autosomal recessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 2 2009 2015