rs878853255
|
1.000 |
0.320 |
11 |
119675192 |
frameshift variant |
-/A
|
delins
|
|
|
Zlotogora-Ogur syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs876657374
|
1.000 |
0.320 |
11 |
119677732 |
frameshift variant |
C/-
|
delins
|
|
|
Zlotogora-Ogur syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs104894281
|
0.882 |
0.320 |
11 |
119677734 |
stop gained |
C/T
|
snv
|
|
|
Zlotogora-Ogur syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
0.710 |
1.000 |
1 |
2006 |
2006 |
rs104894281
|
0.882 |
0.320 |
11 |
119677734 |
stop gained |
C/T
|
snv
|
|
|
Ectodermal Dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2006 |
2006 |
rs104894281
|
0.882 |
0.320 |
11 |
119677734 |
stop gained |
C/T
|
snv
|
|
|
OROFACIAL CLEFT 7
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs769476648
|
1.000 |
0.320 |
11 |
119678445 |
stop gained |
G/A
|
snv
|
4.0E-06
|
|
Zlotogora-Ogur syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs4271390
|
0.925 |
0.120 |
11 |
119655426 |
intron variant |
T/C
|
snv
|
|
0.68
|
Obsessive-Compulsive Disorder
|
Mental Disorders
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs4271390
|
0.925 |
0.120 |
11 |
119655426 |
intron variant |
T/C
|
snv
|
|
0.68
|
Gilles de la Tourette syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
0.700 |
1.000 |
1 |
2015 |
2015 |