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: rs483352809
rs483352809
0.923 0.107 19 6495754 missense variant C/T snp
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases 0.800 8 1993 2015
dbSNP: rs587776983
rs587776983
0.821 0.214 19 6502209 missense variant G/A,C,T snp
DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 4 1985 2014
dbSNP: rs587777429
rs587777429
1.000 0.107 19 6496032 missense variant C/A,T snp 3.2E-05
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 20 2002 2018
dbSNP: rs886039470
rs886039470
1.000 0.107 19 6495714 missense variant C/T snp
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 20 2002 2018
dbSNP: rs587777428
rs587777428
1.000 0.107 19 6495271 missense variant C/T snp
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases 0.700 4 1993 2015
dbSNP: rs767399782
rs767399782
1.000 0.107 19 6495736 missense variant C/A,T snp 4.0E-06
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases 0.700 4 1993 2015
dbSNP: rs797045074
rs797045074
1.000 0.107 19 6495335 missense variant C/G,T snp
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases 0.700 4 1993 2017
dbSNP: rs587776983
rs587776983
0.821 0.214 19 6502209 missense variant G/A,C,T snp
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases 0.700 3 1993 2014
dbSNP: rs587777467
rs587777467
1.000 0.107 19 6502208 missense variant C/G,T snp 5.7E-06
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases 0.700 3 1993 2014
dbSNP: rs587777468
rs587777468
1.000 0.107 19 6495966 missense variant G/A,C snp
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases 0.700 3 1993 2016
dbSNP: rs886039470
rs886039470
1.000 0.107 19 6495714 missense variant C/T snp
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases 0.700 3 1993 2015
dbSNP: rs886041009
rs886041009
1.000 0.107 19 6495783 missense variant C/A snp
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases 0.700 3 1993 2015
dbSNP: rs886041010
rs886041010
1.000 0.107 19 6495768 missense variant C/A,T snp
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases 0.700 3 1993 2016
dbSNP: rs587777429
rs587777429
1.000 0.107 19 6496032 missense variant C/A,T snp 3.2E-05
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases 0.700 2 1993 2015
dbSNP: rs756762431
rs756762431
1.000 0.107 19 6495654 missense variant C/G,T snp 8.0E-06
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases 0.700 2 1993 2014
dbSNP: rs761635539
rs761635539
1.000 0.107 19 6495931 missense variant G/A snp 4.0E-06
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases 0.700 2 1993 2016
dbSNP: rs886041007
rs886041007
1.000 0.107 19 6495769 missense variant C/T snp
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases 0.700 2 1993 2014
dbSNP: rs886041008
rs886041008
1.000 0.107 19 6495955 missense variant G/T snp
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases 0.700 2 1993 2016
dbSNP: rs886041011
rs886041011
1.000 0.107 19 6495625 missense variant G/T snp
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases 0.700 2 1993 2014
dbSNP: rs886041012
rs886041012
1.000 0.107 19 6495599 missense variant C/A snp
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases 0.700 2 1993 2016
dbSNP: rs886041013
rs886041013
1.000 0.107 19 6495558 missense variant G/A snp
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases 0.700 2 1993 2016
dbSNP: rs886041014
rs886041014
1.000 0.107 19 6495531 missense variant A/C snp
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases 0.700 2 1993 2014
dbSNP: rs886041015
rs886041015
1.000 0.107 19 6495445 missense variant C/T snp
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases 0.700 2 1993 2014
dbSNP: rs886041016
rs886041016
1.000 0.107 19 6495438 missense variant C/T snp
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases 0.700 2 1993 2014
dbSNP: rs886041017
rs886041017
1.000 0.107 19 6495408 missense variant G/T snp
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases 0.700 2 1993 2015