rs1313658611
|
1.000 |
0.280 |
2 |
216450924 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
Schimke immunoosseous dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Immune System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2002 |
2009 |
rs200644381
|
1.000 |
0.280 |
2 |
216464640 |
missense variant |
C/G;T
|
snv
|
1.0E-04
|
|
Schimke immunoosseous dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Immune System Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2002 |
2009 |
rs1310728559
|
0.925 |
0.320 |
2 |
216478249 |
missense variant |
T/C
|
snv
|
4.0E-06
|
|
Undifferentiated carcinoma
|
Neoplasms
|
0.010 |
1.000 |
1 |
2013 |
2013 |
rs1310728559
|
0.925 |
0.320 |
2 |
216478249 |
missense variant |
T/C
|
snv
|
4.0E-06
|
|
Schimke immunoosseous dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Immune System Diseases; Cardiovascular Diseases
|
0.010 |
1.000 |
1 |
2013 |
2013 |
rs865906391
|
1.000 |
0.280 |
2 |
216438456 |
missense variant |
C/T
|
snv
|
8.0E-06
|
|
Schimke immunoosseous dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Immune System Diseases; Cardiovascular Diseases
|
0.010 |
1.000 |
1 |
2005 |
2005 |
rs119473034
|
1.000 |
0.280 |
2 |
216414753 |
stop gained |
C/T
|
snv
|
8.0E-06
|
|
Schimke immunoosseous dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Immune System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs119473035
|
1.000 |
0.280 |
2 |
216414804 |
stop gained |
C/T
|
snv
|
|
|
Schimke immunoosseous dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Immune System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs119473036
|
1.000 |
0.280 |
2 |
216435495 |
missense variant |
T/A;C
|
snv
|
|
|
Schimke immunoosseous dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Immune System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs149425324
|
1.000 |
0.280 |
2 |
216475345 |
stop gained |
C/A;G;T
|
snv
|
8.0E-06;
1.6E-05
|
|
Schimke immunoosseous dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Immune System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1553526162
|
1.000 |
0.280 |
2 |
216432766 |
inframe insertion |
-/CTGGGG
|
delins
|
|
|
Schimke immunoosseous dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Immune System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1553535161
|
1.000 |
0.280 |
2 |
216478244 |
missense variant |
G/A
|
snv
|
|
|
Schimke immunoosseous dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Immune System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1559138455
|
1.000 |
0.280 |
2 |
216475452 |
splice donor variant |
G/A
|
snv
|
|
|
Schimke immunoosseous dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Immune System Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs748106387
|
0.851 |
0.240 |
2 |
216415427 |
stop gained |
C/A;T
|
snv
|
2.8E-05
|
|
Small for gestational age (disorder)
|
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
|
0.700 |
|
0 |
|
|
rs748106387
|
0.851 |
0.240 |
2 |
216415427 |
stop gained |
C/A;T
|
snv
|
2.8E-05
|
|
Steroid-resistant nephrotic syndrome
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs748106387
|
0.851 |
0.240 |
2 |
216415427 |
stop gained |
C/A;T
|
snv
|
2.8E-05
|
|
Congenital microcephaly
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs748106387
|
0.851 |
0.240 |
2 |
216415427 |
stop gained |
C/A;T
|
snv
|
2.8E-05
|
|
Weight less than 3rd percentile
|
|
0.700 |
|
0 |
|
|
rs748106387
|
0.851 |
0.240 |
2 |
216415427 |
stop gained |
C/A;T
|
snv
|
2.8E-05
|
|
Short stature
|
|
0.700 |
|
0 |
|
|
rs748106387
|
0.851 |
0.240 |
2 |
216415427 |
stop gained |
C/A;T
|
snv
|
2.8E-05
|
|
Atrioventricular Septal Defect
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs748106387
|
0.851 |
0.240 |
2 |
216415427 |
stop gained |
C/A;T
|
snv
|
2.8E-05
|
|
Focal glomerulosclerosis
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs748106387
|
0.851 |
0.240 |
2 |
216415427 |
stop gained |
C/A;T
|
snv
|
2.8E-05
|
|
Microcephaly (physical finding)
|
|
0.700 |
|
0 |
|
|
rs748106387
|
0.851 |
0.240 |
2 |
216415427 |
stop gained |
C/A;T
|
snv
|
2.8E-05
|
|
Disproportionate short-trunk short stature
|
|
0.700 |
|
0 |
|
|
rs864309531
|
0.882 |
0.400 |
2 |
216423668 |
stop gained |
G/T
|
snv
|
|
|
Delayed speech and language development
|
Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs864309531
|
0.882 |
0.400 |
2 |
216423668 |
stop gained |
G/T
|
snv
|
|
|
Congenital cataract
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs864309531
|
0.882 |
0.400 |
2 |
216423668 |
stop gained |
G/T
|
snv
|
|
|
Unerupted tooth
|
Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs864309531
|
0.882 |
0.400 |
2 |
216423668 |
stop gained |
G/T
|
snv
|
|
|
Skeletal dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
0.700 |
|
0 |
|
|