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: 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: 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: 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