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: 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
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: rs397515524
rs397515524
1.000 0.120 8 63066035 stop gained C/A;T snv 4.0E-06; 2.4E-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 0.800 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: 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: 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: 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: 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: 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: 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: rs886040963
rs886040963
1.000 0.120 8 63073089 splice acceptor variant C/A;G;T snv 8.1E-06; 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 0.700 1.000 2 1998 2014
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: 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: rs121917849
rs121917849
0.882 0.200 8 63072990 missense variant A/C snv 4.0E-06
ATAXIA AND RETINITIS PIGMENTOSA WITH ISOLATED VITAMIN E DEFICIENCY
0.700 0
dbSNP: rs121917850
rs121917850
0.925 0.120 8 63064294 missense variant C/T snv 5.6E-05 9.8E-05
ATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY
0.700 0
dbSNP: rs121917851
rs121917851
0.925 0.120 8 63066056 stop gained G/A snv 2.4E-05 3.5E-05
ATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY
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