rs397514464
|
1.000 |
0.240 |
5 |
59193511 |
missense variant |
G/T
|
snv
|
|
|
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
4 |
2012 |
2013 |
rs397514465
|
0.925 |
0.280 |
5 |
59193507 |
missense variant |
A/C;G
|
snv
|
|
|
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
4 |
2012 |
2013 |
rs397514466
|
1.000 |
0.240 |
5 |
59215856 |
missense variant |
A/C
|
snv
|
|
|
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
4 |
2012 |
2013 |
rs397514467
|
0.925 |
0.240 |
5 |
58976421 |
missense variant |
T/G
|
snv
|
|
|
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
4 |
2012 |
2013 |
rs397514468
|
1.000 |
0.240 |
5 |
59193502 |
missense variant |
G/C
|
snv
|
|
|
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
4 |
2012 |
2013 |
rs397514469
|
1.000 |
0.240 |
5 |
58975076 |
missense variant |
C/T
|
snv
|
|
|
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
4 |
2012 |
2013 |
rs397515433
|
1.000 |
0.240 |
5 |
59038869 |
missense variant |
G/A
|
snv
|
|
|
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
4 |
2012 |
2013 |
rs587777188
|
1.000 |
0.240 |
5 |
58975061 |
missense variant |
A/G
|
snv
|
|
|
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
4 |
2012 |
2013 |
rs1588265
|
1.000 |
0.080 |
5 |
60073967 |
intron variant |
A/G;T
|
snv
|
|
|
Asthma
|
Respiratory Tract Diseases; Immune System Diseases
|
0.800 |
1.000 |
3 |
2009 |
2011 |
rs17444059
|
|
|
5 |
59264891 |
intron variant |
T/C
|
snv
|
|
8.5E-02
|
Cytokine Measurement
|
|
0.800 |
1.000 |
1 |
2012 |
2012 |
rs1544791
|
1.000 |
0.080 |
5 |
60143255 |
intron variant |
T/A;C
|
snv
|
|
|
Asthma
|
Respiratory Tract Diseases; Immune System Diseases
|
0.710 |
1.000 |
2 |
2009 |
2016 |
rs1353747
|
0.882 |
0.080 |
5 |
59041654 |
intron variant |
T/G
|
snv
|
|
6.9E-02
|
Breast Carcinoma
|
Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
3 |
2013 |
2017 |
rs2548659
|
1.000 |
0.080 |
5 |
60088059 |
intron variant |
A/G
|
snv
|
|
0.28
|
Asthma
|
Respiratory Tract Diseases; Immune System Diseases
|
0.700 |
1.000 |
2 |
2009 |
2010 |
rs983280
|
1.000 |
0.080 |
5 |
60149310 |
intron variant |
C/T
|
snv
|
|
0.68
|
Asthma
|
Respiratory Tract Diseases; Immune System Diseases
|
0.700 |
1.000 |
2 |
2009 |
2010 |
rs10052657
|
0.807 |
0.120 |
5 |
59111944 |
intron variant |
C/A
|
snv
|
|
0.17
|
Malignant neoplasm of esophagus
|
Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs10052657
|
0.807 |
0.120 |
5 |
59111944 |
intron variant |
C/A
|
snv
|
|
0.17
|
Esophageal Neoplasms
|
Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs10052657
|
0.807 |
0.120 |
5 |
59111944 |
intron variant |
C/A
|
snv
|
|
0.17
|
Squamous cell carcinoma of esophagus
|
Digestive System Diseases; Neoplasms
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs10052657
|
0.807 |
0.120 |
5 |
59111944 |
intron variant |
C/A
|
snv
|
|
0.17
|
Adolescent idiopathic scoliosis
|
Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs10052657
|
0.807 |
0.120 |
5 |
59111944 |
intron variant |
C/A
|
snv
|
|
0.17
|
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
|
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs10514871
|
1.000 |
0.040 |
5 |
59046488 |
intron variant |
T/A;G
|
snv
|
|
|
Leukemia, Myelocytic, Acute
|
Neoplasms
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1077183
|
1.000 |
0.040 |
5 |
59023320 |
intron variant |
G/A;C
|
snv
|
|
|
Leukemia, Myelocytic, Acute
|
Neoplasms
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs10940642
|
|
|
5 |
59175636 |
intron variant |
A/G
|
snv
|
|
0.75
|
Body Height
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs12515974
|
|
|
5 |
60273696 |
intron variant |
C/T
|
snv
|
|
0.76
|
Serum albumin measurement
|
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs1353747
|
0.882 |
0.080 |
5 |
59041654 |
intron variant |
T/G
|
snv
|
|
6.9E-02
|
Malignant neoplasm of breast
|
Neoplasms; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs1353747
|
0.882 |
0.080 |
5 |
59041654 |
intron variant |
T/G
|
snv
|
|
6.9E-02
|
Leukemia, Myelocytic, Acute
|
Neoplasms
|
0.700 |
1.000 |
1 |
2017 |
2017 |