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: 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: 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: 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: 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: rs121917849
rs121917849 		0.882 0.200 8 63072990 missense variant A/C snv 4.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.020 1.000 2 2002 2002
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: 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: rs181109321
rs181109321 		0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 1999 1999
dbSNP: rs181109321
rs181109321 		0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05
CUI: C0004134
Disease: Ataxia
Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 1999 1999
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: rs121917849
rs121917849 		0.882 0.200 8 63072990 missense variant A/C snv 4.0E-06
CUI: C4016663
Disease: ATAXIA AND RETINITIS PIGMENTOSA WITH ISOLATED VITAMIN E DEFICIENCY
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
CUI: C4016662
Disease: ATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY
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
CUI: C4016662
Disease: ATAXIA, FRIEDREICH-LIKE, WITH ISOLATED VITAMIN E DEFICIENCY
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: 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: rs181109321
rs181109321 		0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05
CUI: C0018536
Disease: Hallux Valgus
Hallux Valgus 		Musculoskeletal Diseases 0.700 0
dbSNP: rs181109321
rs181109321 		0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05
CUI: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0