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: 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: 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: rs397515526
rs397515526 		1.000 0.120 8 63061353 missense variant C/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 0.800 1.000 7 1995 2014
dbSNP: rs397515377
rs397515377 		0.925 0.120 8 63061345 frameshift variant T/- delins
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 6 1995 2015
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: rs786204758
rs786204758 		1.000 0.120 8 63086020 start lost A/G;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 2 1985 1999
dbSNP: rs1554524061
rs1554524061 		1.000 0.120 8 63073064 stop gained TCC/AAT mnv
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 2008 2008
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
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: rs1008240677
rs1008240677 		1.000 0.120 8 63086009 stop gained G/A 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: rs1057516423
rs1057516423 		1.000 0.120 8 63072980 stop gained T/A 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: rs1057517448
rs1057517448 		1.000 0.120 8 63066015 frameshift variant T/- del
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: rs1408863841
rs1408863841 		1.000 0.120 8 63086021 start lost T/A;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: rs1554525125
rs1554525125 		1.000 0.120 8 63085904 frameshift variant CTTCCCGGGCCCGGCGCCGCAGCGCCGCCAG/- delins
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: rs1554525128
rs1554525128 		1.000 0.120 8 63085917 frameshift variant GCCGCAGCGCCGCCAGGCCCGGC/- delins
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: rs1554605498
rs1554605498 		1.000 0.120 8 63064312 stop gained G/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 0
dbSNP: rs1554605631
rs1554605631 		1.000 0.120 8 63065925 frameshift variant CT/ACTTAC delins
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: rs1563363293
rs1563363293 		1.000 0.120 8 63072954 frameshift variant T/- delins
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: 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: 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: rs121917849
rs121917849 		0.882 0.200 8 63072990 missense variant A/C snv 4.0E-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 0.800 1.000 7 1995 2014