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: 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
dbSNP: rs138931129
rs138931129 		1.000 0.120 2 1496690 missense variant G/A snv 1.2E-05 2.1E-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: rs1427024341
rs1427024341 		1.000 0.120 2 1456181 missense variant G/A;C snv 4.0E-06; 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: rs146351101
rs146351101 		1.000 0.120 2 1504076 missense variant G/A snv 6.0E-05 2.1E-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: 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: 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: rs778515113
rs778515113 		1.000 0.120 2 1484734 missense variant G/A;T snv 5.6E-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: 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: rs140124953
rs140124953 		1.000 0.120 2 1494027 missense variant G/A;C snv 2.8E-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 2 2002 2003
dbSNP: rs121908083
rs121908083 		0.925 0.120 2 1484614 missense variant T/G snv 1.0E-04 1.3E-04
CUI: C1321809
Disease: HYPOTHYROIDISM, GOITROUS
HYPOTHYROIDISM, GOITROUS 		0.010 1.000 1 2005 2005
dbSNP: rs754381521
rs754381521 		1.000 2 1503959 missense variant T/C snv 4.0E-06
CUI: C1321809
Disease: HYPOTHYROIDISM, GOITROUS
HYPOTHYROIDISM, GOITROUS 		0.010 1.000 1 2005 2005
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: rs148431413
rs148431413 		1.000 0.040 2 1496134 missense variant T/G snv 6.0E-05 2.2E-04
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs140731896
rs140731896 		1.000 0.120 2 1540594 stop gained G/A;T snv 1.2E-05; 2.0E-04
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 1.000 1 2009 2009
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: 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: 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: 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: 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