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: 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: rs763662774
rs763662774 		1.000 0.120 2 1503983 frameshift variant T/- del 8.4E-05 9.8E-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 4 2000 2014
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: 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: rs1514687
rs1514687 		1.000 2 1434216 intron variant T/G snv 0.86
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.700 1.000 1 2014 2014
dbSNP: rs1514687
rs1514687 		1.000 2 1434216 intron variant T/G snv 0.86
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.700 1.000 1 2014 2014
dbSNP: rs1514687
rs1514687 		1.000 2 1434216 intron variant T/G snv 0.86
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		0.700 1.000 1 2014 2014
dbSNP: rs1514687
rs1514687 		1.000 2 1434216 intron variant T/G snv 0.86
CUI: C1836230
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		0.700 1.000 1 2014 2014
dbSNP: rs1514687
rs1514687 		1.000 2 1434216 intron variant T/G snv 0.86
CUI: C0442874
Disease: Neuropathy
Neuropathy 		Nervous System Diseases 0.700 1.000 1 2014 2014
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: 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: 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: rs369441749
rs369441749 		1.000 0.120 2 1414421 missense variant G/A;T snv 8.0E-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: 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: rs121908085
rs121908085 		1.000 0.120 2 1503956 missense variant G/A snv 8.0E-06 4.9E-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 0.800 1.000 18 1995 2016
dbSNP: rs1035791118
rs1035791118 		1.000 0.120 2 1477563 missense variant G/A snv 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: 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: rs121908083
rs121908083 		0.925 0.120 2 1484614 missense variant T/G snv 1.0E-04 1.3E-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 17 1995 2016
dbSNP: rs121908084
rs121908084 		1.000 0.120 2 1487991 missense variant G/A;C 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: rs121908086
rs121908086 		0.925 0.120 2 1493976 missense variant G/A snv 1.2E-05 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: 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: rs1231870370
rs1231870370 		1.000 0.120 2 1484630 missense variant T/C snv 4.0E-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: rs1297312788
rs1297312788 		1.000 0.120 2 1477398 missense variant G/A snv 8.2E-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