TTPA, alpha tocopherol transfer protein, 7274

N. diseases: 147; N. variants: 31
Disease: Ataxia with vitamin E deficiency ×
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: 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: 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