rs121908083
|
0.925 |
0.120 |
2 |
1484614 |
missense variant |
T/G
|
snv
|
1.0E-04
|
1.3E-04
|
Deficiency of iodide peroxidase (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
17 |
1995 |
2016 |
rs121908083
|
0.925 |
0.120 |
2 |
1484614 |
missense variant |
T/G
|
snv
|
1.0E-04
|
1.3E-04
|
HYPOTHYROIDISM, GOITROUS
|
|
0.010 |
1.000 |
1 |
2005 |
2005 |
rs148431413
|
1.000 |
0.040 |
2 |
1496134 |
missense variant |
T/G
|
snv
|
6.0E-05
|
2.2E-04
|
Thrombocythemia, Essential
|
Hemic and Lymphatic Diseases
|
0.010 |
1.000 |
1 |
2008 |
2008 |
rs1514687
|
1.000 |
|
2 |
1434216 |
intron variant |
T/G
|
snv
|
|
0.86
|
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
|
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs1514687
|
1.000 |
|
2 |
1434216 |
intron variant |
T/G
|
snv
|
|
0.86
|
AIDS, PROGRESSION TO
|
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs1514687
|
1.000 |
|
2 |
1434216 |
intron variant |
T/G
|
snv
|
|
0.86
|
HIV-1, RESISTANCE TO
|
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs1514687
|
1.000 |
|
2 |
1434216 |
intron variant |
T/G
|
snv
|
|
0.86
|
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
|
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs1514687
|
1.000 |
|
2 |
1434216 |
intron variant |
T/G
|
snv
|
|
0.86
|
Neuropathy
|
Nervous System Diseases
|
0.700 |
1.000 |
1 |
2014 |
2014 |
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 |
rs754381521
|
1.000 |
|
2 |
1503959 |
missense variant |
T/C
|
snv
|
4.0E-06
|
|
HYPOTHYROIDISM, GOITROUS
|
|
0.010 |
1.000 |
1 |
2005 |
2005 |
rs935058009
|
1.000 |
0.120 |
2 |
1503983 |
missense variant |
T/C
|
snv
|
|
|
Deficiency of iodide peroxidase (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
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 |
rs779434941
|
1.000 |
0.120 |
2 |
1484838 |
missense variant |
G/T
|
snv
|
5.6E-05
|
2.8E-05
|
Deficiency of iodide peroxidase (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
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 |
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 |
rs121908084
|
1.000 |
0.120 |
2 |
1487991 |
missense variant |
G/A;C
|
snv
|
|
|
Deficiency of iodide peroxidase (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.800 |
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 |
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 |
rs121908085
|
1.000 |
0.120 |
2 |
1503956 |
missense variant |
G/A
|
snv
|
8.0E-06
|
4.9E-05
|
Deficiency of iodide peroxidase (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
18 |
1995 |
2016 |
rs1035791118
|
1.000 |
0.120 |
2 |
1477563 |
missense variant |
G/A
|
snv
|
|
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 |
rs121908086
|
0.925 |
0.120 |
2 |
1493976 |
missense variant |
G/A
|
snv
|
1.2E-05
|
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 |
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 |
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 |