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: 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: 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: 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: 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