rs121909174
|
0.925 |
0.120 |
19 |
17881961 |
missense variant |
A/C
|
snv
|
1.2E-05
|
|
Thyroid Dyshormonogenesis 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
4 |
1997 |
1999 |
rs121909176
|
1.000 |
0.120 |
19 |
17877823 |
missense variant |
C/G
|
snv
|
8.4E-05
|
2.8E-05
|
Thyroid Dyshormonogenesis 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
4 |
1997 |
1999 |
rs121909178
|
1.000 |
0.120 |
19 |
17872596 |
missense variant |
G/A;C
|
snv
|
|
|
Thyroid Dyshormonogenesis 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
4 |
1997 |
1999 |
rs121909179
|
1.000 |
0.120 |
19 |
17888432 |
missense variant |
G/A
|
snv
|
|
|
Thyroid Dyshormonogenesis 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
4 |
1997 |
1999 |
rs121909180
|
1.000 |
0.120 |
19 |
17882160 |
missense variant |
G/A
|
snv
|
4.0E-05
|
2.1E-05
|
Thyroid Dyshormonogenesis 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.800 |
1.000 |
4 |
1997 |
1999 |
rs121909175
|
0.925 |
0.120 |
19 |
17877840 |
stop gained |
C/A
|
snv
|
|
7.0E-06
|
Thyroid Dyshormonogenesis 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs121909177
|
1.000 |
0.120 |
19 |
17888397 |
stop gained |
C/G;T
|
snv
|
5.6E-05;
2.0E-05
|
|
Thyroid Dyshormonogenesis 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs121909174
|
0.925 |
0.120 |
19 |
17881961 |
missense variant |
A/C
|
snv
|
1.2E-05
|
|
Iodide transport defect
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.020 |
1.000 |
2 |
1998 |
2000 |
rs121909174
|
0.925 |
0.120 |
19 |
17881961 |
missense variant |
A/C
|
snv
|
1.2E-05
|
|
Carcinogenesis
|
Pathological Conditions, Signs and Symptoms; Neoplasms
|
0.010 |
1.000 |
1 |
1998 |
1998 |
rs121909175
|
0.925 |
0.120 |
19 |
17877840 |
stop gained |
C/A
|
snv
|
|
7.0E-06
|
Congenital Hypothyroidism
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.010 |
1.000 |
1 |
1997 |
1997 |
rs200597118
|
1.000 |
0.120 |
19 |
17874151 |
missense variant |
G/A
|
snv
|
3.6E-05
|
2.0E-04
|
Iodide transport defect
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
0.010 |
1.000 |
1 |
2006 |
2006 |