rs121918508
|
0.851 |
0.360 |
10 |
121488035 |
missense variant |
C/T
|
snv
|
|
|
Lacrimoauriculodentodigital syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
2 |
2006 |
2007 |
rs121918509
|
1.000 |
0.280 |
10 |
121488095 |
missense variant |
C/T
|
snv
|
|
|
Lacrimoauriculodentodigital syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
2 |
2006 |
2007 |
rs1057519044
|
0.752 |
0.440 |
10 |
121517390 |
missense variant |
C/T
|
snv
|
|
|
Lacrimoauriculodentodigital syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs121913478
|
0.708 |
0.640 |
10 |
121515280 |
missense variant |
T/C
|
snv
|
|
|
Lacrimoauriculodentodigital syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs121918487
|
0.716 |
0.440 |
10 |
121517378 |
missense variant |
C/A;G;T
|
snv
|
|
|
Lacrimoauriculodentodigital syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs121918491
|
0.716 |
0.440 |
10 |
121517371 |
synonymous variant |
C/T
|
snv
|
4.0E-06
|
|
Lacrimoauriculodentodigital syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1434545235
|
0.752 |
0.440 |
10 |
121565500 |
missense variant |
T/C
|
snv
|
4.0E-06
|
|
Lacrimoauriculodentodigital syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1554907337
|
1.000 |
0.280 |
10 |
121487390 |
missense variant |
G/A
|
snv
|
|
|
Lacrimoauriculodentodigital syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1554917471
|
1.000 |
0.280 |
10 |
121500910 |
missense variant |
C/A
|
snv
|
|
|
Lacrimoauriculodentodigital syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1554927408
|
0.742 |
0.480 |
10 |
121515254 |
missense variant |
C/T
|
snv
|
|
|
Lacrimoauriculodentodigital syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs77543610
|
0.667 |
0.560 |
10 |
121520160 |
missense variant |
G/C
|
snv
|
|
|
Lacrimoauriculodentodigital syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs79184941
|
0.617 |
0.600 |
10 |
121520163 |
missense variant |
G/A;C
|
snv
|
5.6E-05;
4.0E-06
|
|
Lacrimoauriculodentodigital syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs879253720
|
1.000 |
0.280 |
10 |
121488028 |
inframe deletion |
TCT/-
|
del
|
|
|
Lacrimoauriculodentodigital syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|