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: rs1558307375
rs1558307375 		1.000 0.120 2 1456222 frameshift variant -/G delins
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: rs763941231
rs763941231 		1.000 0.120 2 1477447 frameshift variant -/GCCG delins 4.9E-04 6.0E-04
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 5 1992 2016
dbSNP: rs732609
rs732609 		0.827 0.160 2 1496155 missense variant A/C;G snv 0.43
CUI: C1304508
Disease: Spindle cell hemangioma
Spindle cell hemangioma 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs732609
rs732609 		0.827 0.160 2 1496155 missense variant A/C;G snv 0.43
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs732609
rs732609 		0.827 0.160 2 1496155 missense variant A/C;G snv 0.43
CUI: C0271790
Disease: Subclinical hypothyroidism
Subclinical hypothyroidism 		Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs732609
rs732609 		0.827 0.160 2 1496155 missense variant A/C;G snv 0.43
CUI: C1337013
Disease: Differentiated Thyroid Gland Carcinoma
Differentiated Thyroid Gland Carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs732609
rs732609 		0.827 0.160 2 1496155 missense variant A/C;G snv 0.43
CUI: C0342191
Disease: Familial dyshormonogenetic goiter
Familial dyshormonogenetic goiter 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2048722
rs2048722 		0.925 2 1492028 intron variant A/G snv 0.51
CUI: C1337013
Disease: Differentiated Thyroid Gland Carcinoma
Differentiated Thyroid Gland Carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs2048722
rs2048722 		0.925 2 1492028 intron variant A/G snv 0.51
CUI: C3840565
Disease: Autoimmune thyroid disease (AITD)
Autoimmune thyroid disease (AITD) 		0.010 1.000 1 2017 2017
dbSNP: rs104893669
rs104893669 		1.000 0.120 2 1484596 missense variant A/G;T snv
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: rs2071403
rs2071403 		0.925 0.120 2 1413472 5 prime UTR variant A/G;T snv
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2071403
rs2071403 		0.925 0.120 2 1413472 5 prime UTR variant A/G;T snv
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs760307139
rs760307139 		1.000 0.120 2 1503976 frameshift variant C/-;CC delins 7.1E-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: rs1126797
rs1126797 		1.000 0.040 2 1494031 missense variant C/A;G;T snv 0.37
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs121908082
rs121908082 		0.925 0.120 2 1487841 stop gained C/A;G;T snv 4.0E-06; 4.0E-06; 1.2E-05
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs121908082
rs121908082 		0.925 0.120 2 1487841 stop gained C/A;G;T snv 4.0E-06; 4.0E-06; 1.2E-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: rs776742629
rs776742629 		1.000 0.120 2 1494026 missense variant C/A;T snv 4.0E-06; 8.0E-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 1.000 17 1995 2016
dbSNP: rs758368355
rs758368355 		1.000 0.120 2 1477452 missense variant C/A;T snv 8.3E-06
CUI: C0342191
Disease: Familial dyshormonogenetic goiter
Familial dyshormonogenetic goiter 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs121908088
rs121908088 		0.925 0.160 2 1494011 stop gained C/G;T snv 3.2E-04
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 20 1995 2016
dbSNP: rs121908088
rs121908088 		0.925 0.160 2 1494011 stop gained C/G;T snv 3.2E-04
CUI: C0025268
Disease: Multiple Endocrine Neoplasia Type 2a
Multiple Endocrine Neoplasia Type 2a 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2008 2008
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