TTPA, alpha tocopherol transfer protein, 7274

N. diseases: 147; N. variants: 31
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: rs397515377
rs397515377 		0.925 0.120 8 63061345 frameshift variant T/- delins
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 6 1995 2015
dbSNP: rs397515377
rs397515377 		0.925 0.120 8 63061345 frameshift variant T/- delins
CUI: C4016662
Disease: ATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY
ATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY 		0.700 0
dbSNP: rs397515526
rs397515526 		1.000 0.120 8 63061353 missense variant C/G snv
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 7 1995 2014
dbSNP: rs35916840
rs35916840 		1.000 0.120 8 63064208 missense variant G/A snv 2.0E-05 2.8E-05
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 2 2010 2014
dbSNP: rs121917850
rs121917850 		0.925 0.120 8 63064294 missense variant C/T snv 5.6E-05 9.8E-05
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 5 1995 2004
dbSNP: rs121917850
rs121917850 		0.925 0.120 8 63064294 missense variant C/T snv 5.6E-05 9.8E-05
CUI: C4016662
Disease: ATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY
ATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY 		0.700 0
dbSNP: rs1554605498
rs1554605498 		1.000 0.120 8 63064312 stop gained G/T snv
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs886040964
rs886040964 		1.000 0.120 8 63065902 splice donor variant A/T snv
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs181109321
rs181109321 		0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 1999 1999
dbSNP: rs181109321
rs181109321 		0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05
CUI: C0004134
Disease: Ataxia
Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 1999 1999
dbSNP: rs181109321
rs181109321 		0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05
CUI: C0018536
Disease: Hallux Valgus
Hallux Valgus 		Musculoskeletal Diseases 0.700 0
dbSNP: rs181109321
rs181109321 		0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05
CUI: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs181109321
rs181109321 		0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05
CUI: C0026034
Disease: Microstomia
Microstomia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0
dbSNP: rs181109321
rs181109321 		0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs181109321
rs181109321 		0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs181109321
rs181109321 		0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05
CUI: C0015672
Disease: Fatigue
Fatigue 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs181109321
rs181109321 		0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs181109321
rs181109321 		0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		0.700 0
dbSNP: rs181109321
rs181109321 		0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs181109321
rs181109321 		0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05
CUI: C0013362
Disease: Dysarthria
Dysarthria 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs181109321
rs181109321 		0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs181109321
rs181109321 		0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05
CUI: C1262477
Disease: Weight decreased
Weight decreased 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs181109321
rs181109321 		0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05
CUI: C1136179
Disease: Hammer Toe
Hammer Toe 		Musculoskeletal Diseases 0.700 0
dbSNP: rs181109321
rs181109321 		0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs181109321
rs181109321 		0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05
CUI: C4021866
Disease: obsolete Abnormal heart morphology
obsolete Abnormal heart morphology 		0.700 0