rs1057518659
|
1.000 |
0.200 |
17 |
46171149 |
frameshift variant |
TTGCTCAAAGT/-
|
delins
|
|
|
Chromosome 17q21.31 Deletion Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs149830411
|
0.827 |
0.360 |
17 |
46171276 |
stop gained |
G/A
|
snv
|
5.2E-05
|
5.6E-05
|
Short stature
|
|
0.700 |
|
0 |
|
|
rs149830411
|
0.827 |
0.360 |
17 |
46171276 |
stop gained |
G/A
|
snv
|
5.2E-05
|
5.6E-05
|
Atrial Septal Defects
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs149830411
|
0.827 |
0.360 |
17 |
46171276 |
stop gained |
G/A
|
snv
|
5.2E-05
|
5.6E-05
|
Broad nasal tip
|
|
0.700 |
|
0 |
|
|
rs149830411
|
0.827 |
0.360 |
17 |
46171276 |
stop gained |
G/A
|
snv
|
5.2E-05
|
5.6E-05
|
Congenital Epicanthus
|
|
0.700 |
|
0 |
|
|
rs149830411
|
0.827 |
0.360 |
17 |
46171276 |
stop gained |
G/A
|
snv
|
5.2E-05
|
5.6E-05
|
Valgus deformities of feet
|
Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs149830411
|
0.827 |
0.360 |
17 |
46171276 |
stop gained |
G/A
|
snv
|
5.2E-05
|
5.6E-05
|
Patent ductus arteriosus
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs149830411
|
0.827 |
0.360 |
17 |
46171276 |
stop gained |
G/A
|
snv
|
5.2E-05
|
5.6E-05
|
Muscle hypotonia
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs149830411
|
0.827 |
0.360 |
17 |
46171276 |
stop gained |
G/A
|
snv
|
5.2E-05
|
5.6E-05
|
Multicystic Dysplastic Kidney
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs149830411
|
0.827 |
0.360 |
17 |
46171276 |
stop gained |
G/A
|
snv
|
5.2E-05
|
5.6E-05
|
Constipation
|
Pathological Conditions, Signs and Symptoms
|
0.700 |
|
0 |
|
|
rs149830411
|
0.827 |
0.360 |
17 |
46171276 |
stop gained |
G/A
|
snv
|
5.2E-05
|
5.6E-05
|
Chromosome 17q21.31 Deletion Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs149830411
|
0.827 |
0.360 |
17 |
46171276 |
stop gained |
G/A
|
snv
|
5.2E-05
|
5.6E-05
|
Deglutition Disorders
|
Digestive System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs149830411
|
0.827 |
0.360 |
17 |
46171276 |
stop gained |
G/A
|
snv
|
5.2E-05
|
5.6E-05
|
Dysmorphic facies
|
|
0.700 |
|
0 |
|
|
rs149830411
|
0.827 |
0.360 |
17 |
46171276 |
stop gained |
G/A
|
snv
|
5.2E-05
|
5.6E-05
|
Orbital separation excessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs149830411
|
0.827 |
0.360 |
17 |
46171276 |
stop gained |
G/A
|
snv
|
5.2E-05
|
5.6E-05
|
Poor school performance
|
|
0.700 |
|
0 |
|
|
rs149830411
|
0.827 |
0.360 |
17 |
46171276 |
stop gained |
G/A
|
snv
|
5.2E-05
|
5.6E-05
|
Widely spaced teeth
|
|
0.700 |
|
0 |
|
|
rs1555575405
|
1.000 |
0.200 |
17 |
46171266 |
frameshift variant |
T/-
|
del
|
|
|
Chromosome 17q21.31 Deletion Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1555575816
|
1.000 |
0.200 |
17 |
46171572 |
frameshift variant |
C/-
|
delins
|
|
|
Chromosome 17q21.31 Deletion Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1555734136
|
1.000 |
0.200 |
17 |
46039772 |
frameshift variant |
-/A
|
delins
|
|
|
Chromosome 17q21.31 Deletion Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1555753569
|
1.000 |
0.200 |
17 |
46082510 |
frameshift variant |
-/G
|
delins
|
|
|
Chromosome 17q21.31 Deletion Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1567761585
|
1.000 |
0.200 |
17 |
46171098 |
frameshift variant |
T/-
|
delins
|
|
|
Chromosome 17q21.31 Deletion Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1567764119
|
1.000 |
0.200 |
17 |
46171695 |
frameshift variant |
G/-
|
delins
|
|
|
Chromosome 17q21.31 Deletion Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1568366050
|
1.000 |
0.200 |
17 |
46032198 |
frameshift variant |
AA/-
|
delins
|
|
|
Chromosome 17q21.31 Deletion Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs281865470
|
1.000 |
0.200 |
17 |
46067548 |
splice donor variant |
C/T
|
snv
|
|
|
Chromosome 17q21.31 Deletion Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs281865471
|
1.000 |
0.200 |
17 |
46033131 |
frameshift variant |
TC/-
|
delins
|
|
|
Chromosome 17q21.31 Deletion Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|