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: 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: 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: rs763152962
rs763152962 		0.925 0.200 12 104348386 missense variant G/A snv 4.0E-06
CUI: C1291557
Disease: Deficiency of lyase
Deficiency of lyase 		0.010 1.000 1 2008 2008
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: rs759589565
rs759589565 		0.925 0.040 12 104321227 missense variant A/G snv 4.0E-05 3.5E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs759589565
rs759589565 		0.925 0.040 12 104321227 missense variant A/G snv 4.0E-05 3.5E-05
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs778924100
rs778924100 		0.925 0.040 12 104318981 stop gained C/G;T snv 2.0E-05; 4.0E-06
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs778924100
rs778924100 		0.925 0.040 12 104318981 stop gained C/G;T snv 2.0E-05; 4.0E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1166778729
rs1166778729 		1.000 0.080 12 104315822 missense variant T/C snv 7.0E-06
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
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: 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: rs1205703563
rs1205703563 		0.882 0.200 12 104315829 frameshift variant T/- del 8.0E-06 7.0E-06
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
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: C0268287
Disease: Deficiency of steroid 21-monooxygenase
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: rs557961762
rs557961762 		1.000 0.200 12 104339166 missense variant G/A snv 4.0E-06
CUI: C0268290
Disease: Severe steroid 21-hydroxylase deficiency
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
dbSNP: rs763152962
rs763152962 		0.925 0.200 12 104348386 missense variant G/A snv 4.0E-06
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia 		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 < 0.001 1 2013 2013
dbSNP: rs988157885
rs988157885 		1.000 0.200 12 104321122 missense variant G/A snv
CUI: C0268290
Disease: Severe steroid 21-hydroxylase deficiency
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
dbSNP: rs751967108
rs751967108 		1.000 0.120 12 104325362 missense variant C/G snv
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 1991 1991
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: 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: 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: rs779529169
rs779529169 		1.000 0.040 12 104289006 frameshift variant GA/- delins 5.6E-05 3.5E-05
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs1322643228
rs1322643228 		0.807 0.280 12 104321110 missense variant C/T snv 7.1E-06
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
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: 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: 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