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: rs4739046
rs4739046 		8 63066929 intron variant T/C snv 7.4E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs121917849
rs121917849 		0.882 0.200 8 63072990 missense variant A/C snv 4.0E-06
CUI: C4016663
Disease: ATAXIA AND RETINITIS PIGMENTOSA WITH ISOLATED VITAMIN E DEFICIENCY
ATAXIA AND RETINITIS PIGMENTOSA WITH ISOLATED VITAMIN E DEFICIENCY 		0.700 0
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: rs121917851
rs121917851 		0.925 0.120 8 63066056 stop gained G/A snv 2.4E-05 3.5E-05
CUI: C4016662
Disease: ATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY
ATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY 		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: 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: 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: 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
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: rs397515378
rs397515378 		0.925 0.120 8 63065969 frameshift variant A/- delins 5.6E-05
CUI: C4016662
Disease: ATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY
ATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY 		0.700 0
dbSNP: rs397515379
rs397515379 		0.925 0.120 8 63065942 frameshift variant -/AA ins 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: rs121917849
rs121917849 		0.882 0.200 8 63072990 missense variant A/C snv 4.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.020 1.000 2 2002 2002
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: rs6994076
rs6994076 		1.000 0.040 8 63087002 upstream gene variant A/T snv 0.57
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		Eye Diseases 0.010 < 0.001 1 2013 2013
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: 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: 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: 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: 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: 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: 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