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: 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: 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: 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: 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: 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: 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: 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: rs6539137
rs6539137 		1.000 0.080 12 104313402 intron variant A/T 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: rs748358920
rs748358920 		0.925 0.080 12 104318993 missense variant C/T snv 1.2E-05 4.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs748358920
rs748358920 		0.925 0.080 12 104318993 missense variant C/T snv 1.2E-05 4.2E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
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
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: 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: rs756007506
rs756007506 		1.000 0.120 12 104327604 missense variant T/C snv 4.0E-06
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2005 2005
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