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: rs104894476
rs104894476 		1.000 0.040 14 67729220 missense variant C/G snv
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13 		Eye Diseases 0.800 1.000 2 2004 2004
dbSNP: rs1239043055
rs1239043055 		0.925 0.080 14 67729248 missense variant G/A;T snv 8.1E-06; 4.0E-06
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13 		Eye Diseases 0.700 1.000 2 2005 2014
dbSNP: rs752283089
rs752283089 		14 67783217 stop gained G/T snv 4.0E-06
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 2 2013 2015
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: 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: rs869312914
rs869312914 		1.000 0.120 14 67752520 stop gained G/A snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 2 2013 2015
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: 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: rs1555394376
rs1555394376 		1.000 0.080 14 67762275 frameshift variant -/A delins
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2017 2017
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: 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: 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: rs118204050
rs118204050 		1.000 0.120 14 67802241 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: rs1186788102
rs1186788102 		1.000 0.120 14 67790775 splice acceptor variant T/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: rs1239043055
rs1239043055 		0.925 0.080 14 67729248 missense variant G/A;T snv 8.1E-06; 4.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs137907310
rs137907310 		1.000 0.120 14 67786113 splice donor variant C/A;T snv 2.4E-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: rs1555393005
rs1555393005 		1.000 0.120 14 67751050 splice donor variant A/G 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: rs1555393181
rs1555393181 		1.000 0.120 14 67752343 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: rs1555393338
rs1555393338 		1.000 0.120 14 67753706 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: rs1555393393
rs1555393393 		1.000 0.120 14 67754213 splice acceptor 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: rs1555394824
rs1555394824 		1.000 0.120 14 67766231 frameshift variant -/A delins
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: rs1555395288
rs1555395288 		1.000 0.120 14 67769732 splice acceptor variant T/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 0
dbSNP: rs1555395524
rs1555395524 		1.000 0.120 14 67772046 splice donor variant C/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: rs1555395525
rs1555395525 		1.000 0.120 14 67772046 splice donor variant C/- delins
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: rs1555395560
rs1555395560 		1.000 0.120 14 67772212 splice acceptor variant T/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 0