TXNRD1, thioredoxin reductase 1, 7296

N. diseases: 136; N. variants: 21
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: rs7975161
rs7975161
12 104251627 synonymous variant T/C snv 0.83 0.84
CUI: C0373721
Disease: Selenium measurement
Selenium measurement
0.700 1.000 1 2015 2015
dbSNP: rs1048103951
rs1048103951
0.925 0.040 12 104321282 missense variant G/A snv
CUI: C0025637
Disease: Methemoglobinemia
Methemoglobinemia
Hemic and Lymphatic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs1048103951
rs1048103951
0.925 0.040 12 104321282 missense variant G/A snv
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.010 1.000 1 2004 2004
dbSNP: rs1166778729
rs1166778729
1.000 0.080 12 104315822 missense variant T/C snv 7.0E-06
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1205703563
rs1205703563
0.882 0.200 12 104315829 frameshift variant T/- del 8.0E-06 7.0E-06
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1205703563
rs1205703563
0.882 0.200 12 104315829 frameshift variant T/- del 8.0E-06 7.0E-06
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency
0.010 1.000 1 2008 2008
dbSNP: rs1205703563
rs1205703563
0.882 0.200 12 104315829 frameshift variant T/- del 8.0E-06 7.0E-06
Deficiency of steroid 21-monooxygenase
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1322643228
rs1322643228
0.807 0.280 12 104321110 missense variant C/T snv 7.1E-06
Malignant neoplasm of urinary bladder
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1322643228
rs1322643228
0.807 0.280 12 104321110 missense variant C/T snv 7.1E-06
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1322643228
rs1322643228
0.807 0.280 12 104321110 missense variant C/T snv 7.1E-06
CUI: C0686347
Disease: Tardive Dyskinesia
Tardive Dyskinesia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1322643228
rs1322643228
0.807 0.280 12 104321110 missense variant C/T snv 7.1E-06
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs1322643228
rs1322643228
0.807 0.280 12 104321110 missense variant C/T snv 7.1E-06
CUI: C3714760
Disease: Drug-induced tardive dyskinesia
Drug-induced tardive dyskinesia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Chemically-Induced Disorders 0.010 1.000 1 2008 2008
dbSNP: rs1322643228
rs1322643228
0.807 0.280 12 104321110 missense variant C/T snv 7.1E-06
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1330075052
rs1330075052
0.882 0.160 12 104215828 missense variant T/C snv 1.4E-05
CUI: C3714760
Disease: Drug-induced tardive dyskinesia
Drug-induced tardive dyskinesia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Chemically-Induced Disorders 0.010 1.000 1 2008 2008
dbSNP: rs1330075052
rs1330075052
0.882 0.160 12 104215828 missense variant T/C snv 1.4E-05
CUI: C0686347
Disease: Tardive Dyskinesia
Tardive Dyskinesia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1330075052
rs1330075052
0.882 0.160 12 104215828 missense variant T/C snv 1.4E-05
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs1421865028
rs1421865028
1.000 0.160 12 104319585 missense variant G/A snv
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs17202060
rs17202060
0.925 0.080 12 104337068 intron variant C/T snv 0.29
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs17202060
rs17202060
0.925 0.080 12 104337068 intron variant C/T snv 0.29
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs368849022
rs368849022
12 104327633 synonymous variant T/C snv 1.2E-04 9.8E-05
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
Nutritional and Metabolic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs377062126
rs377062126
0.882 0.120 12 104319543 missense variant G/A snv 2.1E-05 3.5E-05
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2017 2017
dbSNP: rs377062126
rs377062126
0.882 0.120 12 104319543 missense variant G/A snv 2.1E-05 3.5E-05
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2017 2017
dbSNP: rs377062126
rs377062126
0.882 0.120 12 104319543 missense variant G/A snv 2.1E-05 3.5E-05
Malignant neoplasm of urinary bladder
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2017 2017
dbSNP: rs4630362
rs4630362
1.000 0.080 12 104333966 intron variant G/C snv 0.93
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1
Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs557961762
rs557961762
1.000 0.200 12 104339166 missense variant G/A snv 4.0E-06
Severe steroid 21-hydroxylase deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 1992 1992