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: rs587778807
rs587778807 		1.000 0.080 2 218782252 frameshift variant G/- delins
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs587778808
rs587778808 		1.000 0.080 2 218812657 stop gained C/A snv
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs587778810
rs587778810 		1.000 0.080 2 218812684 stop gained G/A snv
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs587778815
rs587778815 		1.000 0.080 2 218812942 frameshift variant A/- del
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs72551314
rs72551314 		1.000 0.080 2 218812250 stop gained C/T snv 1.2E-05 1.4E-05
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs72551315
rs72551315 		1.000 0.080 2 218812596 stop gained C/T snv 1.4E-05
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs72551320
rs72551320 		1.000 0.080 2 218814064 missense variant A/G snv
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs755532803
rs755532803 		1.000 0.080 2 218812569 frameshift variant CGAGAAACGCATT/- delins 8.0E-06 2.1E-05
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs777935791
rs777935791 		1.000 0.080 2 218814460 splice donor variant T/C snv 8.0E-06
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs79535262
rs79535262 		1.000 0.080 2 218812422 splice donor variant G/C snv
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs886556800
rs886556800 		0.827 0.320 2 218809576 splice acceptor variant G/T snv
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs886556800
rs886556800 		0.827 0.320 2 218809576 splice acceptor variant G/T snv
CUI: C1866129
Disease: Abnormality of the cerebellum
Abnormality of the cerebellum 		Nervous System Diseases 0.700 0
dbSNP: rs886556800
rs886556800 		0.827 0.320 2 218809576 splice acceptor variant G/T snv
CUI: C0575059
Disease: Spastic tetraparesis
Spastic tetraparesis 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs886556800
rs886556800 		0.827 0.320 2 218809576 splice acceptor variant G/T snv
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		Digestive System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs886556800
rs886556800 		0.827 0.320 2 218809576 splice acceptor variant G/T snv
CUI: C0401151
Disease: Chronic diarrhea
Chronic diarrhea 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 0
dbSNP: rs886556800
rs886556800 		0.827 0.320 2 218809576 splice acceptor variant G/T snv
CUI: C0151313
Disease: Sensory neuropathy
Sensory neuropathy 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs886556800
rs886556800 		0.827 0.320 2 218809576 splice acceptor variant G/T snv
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs886556800
rs886556800 		0.827 0.320 2 218809576 splice acceptor variant G/T snv
CUI: C1522133
Disease: Hypercholesterolemia result
Hypercholesterolemia result 		0.700 0
dbSNP: rs886556800
rs886556800 		0.827 0.320 2 218809576 splice acceptor variant G/T snv
CUI: C0221166
Disease: Paraparesis
Paraparesis 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs121908096
rs121908096 		0.827 0.320 2 218814186 missense variant C/A;T snv 8.0E-06; 2.9E-04
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.830 1.000 19 1991 2016
dbSNP: rs121908099
rs121908099 		1.000 0.080 2 218814409 missense variant G/A snv 4.0E-05 7.0E-06
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 14 1991 2018
dbSNP: rs121908098
rs121908098 		1.000 0.080 2 218814701 missense variant C/T snv 2.4E-05 7.0E-06
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.810 1.000 13 1991 2012
dbSNP: rs72551322
rs72551322 		1.000 0.080 2 218814716 missense variant C/A;G;T snv 1.6E-05; 1.2E-05; 4.4E-05
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.810 1.000 11 1991 2016
dbSNP: rs121908097
rs121908097 		1.000 0.080 2 218814702 missense variant G/A snv 1.6E-05 2.8E-05
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.810 1.000 6 1991 2002
dbSNP: rs72551313
rs72551313 		1.000 0.080 2 218809755 missense variant G/A snv
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 5 1991 2002