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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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