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: rs374507635
rs374507635 		1.000 0.080 2 218815007 stop gained C/A;T snv 4.0E-06
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2011 2011
dbSNP: rs397515356
rs397515356 		1.000 0.080 2 218813022 frameshift variant TGGCC/- delins
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2002 2002
dbSNP: rs533885672
rs533885672 		1.000 0.080 2 218814075 stop gained C/T snv 2.4E-05 2.1E-05
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs587778812
rs587778812 		1.000 0.080 2 218812724 frameshift variant T/- del 4.0E-06; 4.0E-06
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 1993 1993
dbSNP: rs6709815
rs6709815 		2 218810344 intron variant G/C;T snv
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs691960
rs691960 		2 218809281 intron variant G/T snv 7.0E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs691960
rs691960 		2 218809281 intron variant G/T snv 7.0E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs691960
rs691960 		2 218809281 intron variant G/T snv 7.0E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs72551316
rs72551316 		1.000 0.080 2 218812650 stop gained C/T snv 8.0E-06 7.0E-06
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2000 2000
dbSNP: rs72551319
rs72551319 		1.000 0.080 2 218812929 stop gained A/T snv 1.6E-05 2.1E-05
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2018 2018
dbSNP: rs886041342
rs886041342 		1.000 0.080 2 218782184 frameshift variant -/TGGGCTGCGC delins
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2006 2006
dbSNP: rs886556800
rs886556800 		0.827 0.320 2 218809576 splice acceptor variant G/T snv
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1057519469
rs1057519469 		1.000 0.080 2 218812926 stop gained A/T snv
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1160640803
rs1160640803 		1.000 0.080 2 218809720 stop gained G/A;C snv 4.0E-06 7.0E-06
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic 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: C1522133
Disease: Hypercholesterolemia result
Hypercholesterolemia result 		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: C0151313
Disease: Sensory neuropathy
Sensory neuropathy 		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: C0575059
Disease: Spastic tetraparesis
Spastic tetraparesis 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; 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: 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: rs121908096
rs121908096 		0.827 0.320 2 218814186 missense variant C/A;T snv 8.0E-06; 2.9E-04
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		Pathological Conditions, Signs and Symptoms 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: C0401151
Disease: Chronic diarrhea
Chronic diarrhea 		Pathological Conditions, Signs and Symptoms; Digestive 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: C1866129
Disease: Abnormality of the cerebellum
Abnormality of the cerebellum 		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: 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: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		Digestive System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1553614310
rs1553614310 		1.000 0.080 2 218782375 stop gained C/T snv
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1553616235
rs1553616235 		1.000 0.080 2 218812314 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