rs122445101
|
0.882 |
0.240 |
X |
77558781 |
missense variant |
C/T
|
snv
|
|
|
Juberg-Marsidi syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
6 |
1996 |
2005 |
rs122445109
|
0.925 |
0.200 |
X |
77684030 |
missense variant |
A/G
|
snv
|
|
|
Juberg-Marsidi syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
6 |
1996 |
2005 |
rs122445110
|
0.882 |
0.200 |
X |
77589902 |
missense variant |
A/G
|
snv
|
|
|
Juberg-Marsidi syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
6 |
1996 |
2005 |
rs122445111
|
0.925 |
0.200 |
X |
77684942 |
missense variant |
C/T
|
snv
|
|
|
Juberg-Marsidi syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
6 |
1996 |
2005 |
rs122445112
|
0.925 |
0.200 |
X |
77523290 |
missense variant |
T/C
|
snv
|
5.5E-06
|
|
Juberg-Marsidi syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
6 |
1996 |
2005 |
rs122445108
|
0.807 |
0.320 |
X |
77717155 |
stop gained |
G/A
|
snv
|
|
|
Juberg-Marsidi syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2000 |
2000 |
rs1057517948
|
1.000 |
0.200 |
X |
77574322 |
missense variant |
C/A;T
|
snv
|
|
|
Juberg-Marsidi syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs122445103
|
0.925 |
0.240 |
X |
77688844 |
missense variant |
G/C
|
snv
|
|
|
Juberg-Marsidi syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs122445105
|
0.882 |
0.240 |
X |
77684520 |
missense variant |
G/A
|
snv
|
|
|
Juberg-Marsidi syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs398123425
|
0.776 |
0.320 |
X |
77688876 |
missense variant |
T/C
|
snv
|
|
|
Juberg-Marsidi syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|