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: 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: 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: 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: 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: 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: 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: 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: rs1057518950
rs1057518950 		0.851 0.280 2 1484815 missense variant C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1057518950
rs1057518950 		0.851 0.280 2 1484815 missense variant C/T snv
CUI: C0241442
Disease: Protrusion of tongue
Protrusion of tongue 		0.700 0
dbSNP: rs1057518950
rs1057518950 		0.851 0.280 2 1484815 missense variant C/T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1057518950
rs1057518950 		0.851 0.280 2 1484815 missense variant C/T snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 0
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: 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