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: 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: 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: 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: 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: 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: 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: 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