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: 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
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: rs397515523
rs397515523 		1.000 0.120 8 63085831 missense variant T/C 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: rs397515525
rs397515525 		1.000 0.120 8 63065908 missense variant A/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 0.700 0
dbSNP: rs758349851
rs758349851 		1.000 0.120 8 63073090 splice acceptor variant T/C snv 1.6E-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: rs397515522
rs397515522 		1.000 0.120 8 63085847 missense variant G/A snv 7.0E-06
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 7 1995 2014
dbSNP: rs760014795
rs760014795 		1.000 0.120 8 63086003 frameshift variant G/- delins 4.8E-05 1.4E-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: 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: rs121917851
rs121917851 		0.925 0.120 8 63066056 stop gained G/A snv 2.4E-05 3.5E-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 1.000 7 1998 2015
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: rs397515378
rs397515378 		0.925 0.120 8 63065969 frameshift variant A/- delins 5.6E-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 1.000 4 1996 2004
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: rs143010236
rs143010236 		1.000 0.120 8 63072935 missense variant C/T snv 3.2E-05 7.7E-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 7 1995 2014
dbSNP: rs397515379
rs397515379 		0.925 0.120 8 63065942 frameshift variant -/AA ins 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 0.700 1.000 10 1995 2015
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