TPO, thyroid peroxidase, 7173

N. diseases: 306; N. variants: 47
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: rs371367459
rs371367459 		1.000 0.120 2 1477242 missense variant G/A snv 8.5E-06 1.4E-05
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 1.000 17 1995 2016
dbSNP: rs1031249675
rs1031249675 		1.000 0.040 2 1493810 missense variant G/A snv 4.0E-06
CUI: C1998045
Disease: Subclinical hyperthyroidism
Subclinical hyperthyroidism 		Endocrine System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1043843717
rs1043843717 		1.000 0.120 2 1477221 missense variant G/A snv 7.0E-06
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs121908086
rs121908086 		0.925 0.120 2 1493976 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs753012199
rs753012199 		1.000 0.120 2 1477425 missense variant G/A snv 7.0E-06
CUI: C0018021
Disease: Goiter
Goiter 		Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs753012199
rs753012199 		1.000 0.120 2 1477425 missense variant G/A snv 7.0E-06
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs770562452
rs770562452 		1.000 0.120 2 1487982 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs868428082
rs868428082 		1.000 0.120 2 1496182 missense variant G/A snv
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs1173922703
rs1173922703 		1.000 0.120 2 1477501 missense variant G/A snv 7.0E-06
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs201165648
rs201165648 		1.000 0.120 2 1484729 missense variant G/A snv 4.0E-05 7.7E-05
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs121908087
rs121908087 		1.000 0.120 2 1496059 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C1291299
Disease: Deficiency of iodide peroxidase (disorder)
Deficiency of iodide peroxidase (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.800 1.000 17 1995 2016
dbSNP: rs11675342
rs11675342 		0.851 0.040 2 1403856 intron variant C/T snv 0.40
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		Endocrine System Diseases 0.700 1.000 3 2016 2019
dbSNP: rs11675434
rs11675434 		0.827 0.240 2 1404043 non coding transcript exon variant C/T snv 0.39
CUI: C0339143
Disease: Thyroid associated opthalmopathies
Thyroid associated opthalmopathies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.020 0.500 2 2015 2017
dbSNP: rs11675434
rs11675434 		0.827 0.240 2 1404043 non coding transcript exon variant C/T snv 0.39
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.020 0.500 2 2015 2017
dbSNP: rs200475577
rs200475577 		1.000 0.120 2 1487905 missense variant C/T snv 1.6E-05
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.020 1.000 2 2016 2016
dbSNP: rs11675342
rs11675342 		0.851 0.040 2 1403856 intron variant C/T snv 0.40
CUI: C4310768
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 		0.700 1.000 1 2019 2019
dbSNP: rs11675342
rs11675342 		0.851 0.040 2 1403856 intron variant C/T snv 0.40
CUI: C3150797
Disease: AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 		0.700 1.000 1 2019 2019
dbSNP: rs11675342
rs11675342 		0.851 0.040 2 1403856 intron variant C/T snv 0.40
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.700 1.000 1 2019 2019
dbSNP: rs11675342
rs11675342 		0.851 0.040 2 1403856 intron variant C/T snv 0.40
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs11675434
rs11675434 		0.827 0.240 2 1404043 non coding transcript exon variant C/T snv 0.39
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs11675434
rs11675434 		0.827 0.240 2 1404043 non coding transcript exon variant C/T snv 0.39
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs11675434
rs11675434 		0.827 0.240 2 1404043 non coding transcript exon variant C/T snv 0.39
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2071400
rs2071400 		0.882 0.120 2 1412867 intron variant C/T snv 0.11
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2071400
rs2071400 		0.882 0.120 2 1412867 intron variant C/T snv 0.11
CUI: C3840565
Disease: Autoimmune thyroid disease (AITD)
Autoimmune thyroid disease (AITD) 		0.010 1.000 1 2017 2017
dbSNP: rs2071400
rs2071400 		0.882 0.120 2 1412867 intron variant C/T snv 0.11
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		Endocrine System Diseases 0.010 1.000 1 2017 2017