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: 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: 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: 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: rs1224762841
rs1224762841 		1.000 0.120 14 67806544 splice donor variant C/A snv 4.0E-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: 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: 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: rs12891047
rs12891047 		0.851 0.080 14 67776358 intron variant C/A snv 0.62
CUI: C1862941
Disease: Amyotrophic Lateral Sclerosis, Sporadic
Amyotrophic Lateral Sclerosis, Sporadic 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs12891047
rs12891047 		0.851 0.080 14 67776358 intron variant C/A snv 0.62
CUI: C3542025
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE 		0.700 1.000 1 2014 2014
dbSNP: rs12891047
rs12891047 		0.851 0.080 14 67776358 intron variant C/A snv 0.62
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs12891047
rs12891047 		0.851 0.080 14 67776358 intron variant C/A snv 0.62
CUI: C1842675
Disease: AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) 		0.700 1.000 1 2014 2014
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: rs1470672632
rs1470672632 		1.000 0.120 14 67786235 splice acceptor variant T/C snv 8.1E-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: 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: 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: 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