rs121908087
|
1.000 |
0.120 |
2 |
1496059 |
missense variant |
C/T
|
snv
|
8.0E-06
|
7.0E-06
|
Deficiency of iodide peroxidase (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
17 |
1995 |
2016 |
rs1231870370
|
1.000 |
0.120 |
2 |
1484630 |
missense variant |
T/C
|
snv
|
4.0E-06
|
|
Deficiency of iodide peroxidase (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
17 |
1995 |
2016 |
rs1297312788
|
1.000 |
0.120 |
2 |
1477398 |
missense variant |
G/A
|
snv
|
8.2E-06
|
|
Deficiency of iodide peroxidase (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
17 |
1995 |
2016 |
rs138931129
|
1.000 |
0.120 |
2 |
1496690 |
missense variant |
G/A
|
snv
|
1.2E-05
|
2.1E-05
|
Deficiency of iodide peroxidase (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
17 |
1995 |
2016 |
rs1427024341
|
1.000 |
0.120 |
2 |
1456181 |
missense variant |
G/A;C
|
snv
|
4.0E-06;
4.0E-06
|
|
Deficiency of iodide peroxidase (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
17 |
1995 |
2016 |
rs146351101
|
1.000 |
0.120 |
2 |
1504076 |
missense variant |
G/A
|
snv
|
6.0E-05
|
2.1E-05
|
Deficiency of iodide peroxidase (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
17 |
1995 |
2016 |
rs371367459
|
1.000 |
0.120 |
2 |
1477242 |
missense variant |
G/A
|
snv
|
8.5E-06
|
1.4E-05
|
Deficiency of iodide peroxidase (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
17 |
1995 |
2016 |
rs776742629
|
1.000 |
0.120 |
2 |
1494026 |
missense variant |
C/A;T
|
snv
|
4.0E-06;
8.0E-06
|
|
Deficiency of iodide peroxidase (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
17 |
1995 |
2016 |
rs778515113
|
1.000 |
0.120 |
2 |
1484734 |
missense variant |
G/A;T
|
snv
|
5.6E-05
|
|
Deficiency of iodide peroxidase (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
17 |
1995 |
2016 |
rs763941231
|
1.000 |
0.120 |
2 |
1477447 |
frameshift variant |
-/GCCG
|
delins
|
4.9E-04
|
6.0E-04
|
Deficiency of iodide peroxidase (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
5 |
1992 |
2016 |
rs763662774
|
1.000 |
0.120 |
2 |
1503983 |
frameshift variant |
T/-
|
del
|
8.4E-05
|
9.8E-05
|
Deficiency of iodide peroxidase (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
4 |
2000 |
2014 |
rs140124953
|
1.000 |
0.120 |
2 |
1494027 |
missense variant |
G/A;C
|
snv
|
2.8E-05
|
|
Deficiency of iodide peroxidase (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.700 |
1.000 |
2 |
2002 |
2003 |
rs200475577
|
1.000 |
0.120 |
2 |
1487905 |
missense variant |
C/T
|
snv
|
1.6E-05
|
|
Congenital Hypothyroidism
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.020 |
1.000 |
2 |
2016 |
2016 |
rs1043843717
|
1.000 |
0.120 |
2 |
1477221 |
missense variant |
G/A
|
snv
|
|
7.0E-06
|
Congenital Hypothyroidism
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs121908082
|
0.925 |
0.120 |
2 |
1487841 |
stop gained |
C/A;G;T
|
snv
|
4.0E-06;
4.0E-06;
1.2E-05
|
|
Congenital Hypothyroidism
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs121908086
|
0.925 |
0.120 |
2 |
1493976 |
missense variant |
G/A
|
snv
|
1.2E-05
|
7.0E-06
|
Congenital Hypothyroidism
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs140731896
|
1.000 |
0.120 |
2 |
1540594 |
stop gained |
G/A;T
|
snv
|
1.2E-05;
2.0E-04
|
|
Congenital Hypothyroidism
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.010 |
1.000 |
1 |
2009 |
2009 |
rs369441749
|
1.000 |
0.120 |
2 |
1414421 |
missense variant |
G/A;T
|
snv
|
8.0E-06;
1.2E-05
|
|
Congenital Hypothyroidism
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs732609
|
0.827 |
0.160 |
2 |
1496155 |
missense variant |
A/C;G
|
snv
|
0.43
|
|
Familial dyshormonogenetic goiter
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs753012199
|
1.000 |
0.120 |
2 |
1477425 |
missense variant |
G/A
|
snv
|
|
7.0E-06
|
Congenital Hypothyroidism
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs758368355
|
1.000 |
0.120 |
2 |
1477452 |
missense variant |
C/A;T
|
snv
|
8.3E-06
|
|
Familial dyshormonogenetic goiter
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs1057518950
|
0.851 |
0.280 |
2 |
1484815 |
missense variant |
C/T
|
snv
|
|
|
Congenital Hypothyroidism
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1169072188
|
1.000 |
0.120 |
2 |
1484753 |
missense variant |
C/T
|
snv
|
8.0E-06
|
4.2E-05
|
Deficiency of iodide peroxidase (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1173922703
|
1.000 |
0.120 |
2 |
1477501 |
missense variant |
G/A
|
snv
|
|
7.0E-06
|
Deficiency of iodide peroxidase (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs121908082
|
0.925 |
0.120 |
2 |
1487841 |
stop gained |
C/A;G;T
|
snv
|
4.0E-06;
4.0E-06;
1.2E-05
|
|
Deficiency of iodide peroxidase (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|