rs879255245
|
1.000 |
0.120 |
1 |
24342238 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
Van der Woude syndrome 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.800 |
1.000 |
1 |
2014 |
2014 |
rs752673677
|
1.000 |
0.120 |
1 |
24338044 |
missense variant |
G/A
|
snv
|
2.0E-05
|
7.0E-06
|
Van der Woude syndrome 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.800 |
|
0 |
|
|
rs41268753
|
0.882 |
0.200 |
1 |
24342967 |
missense variant |
C/T
|
snv
|
2.3E-02
|
2.3E-02
|
Cleft Palate
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.730 |
0.750 |
4 |
2016 |
2018 |
rs797044857
|
|
|
1 |
24354474 |
missense variant |
C/G
|
snv
|
|
|
Multiple congenital anomalies
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
0.700 |
1.000 |
3 |
2014 |
2018 |
rs1553172687
|
1.000 |
0.120 |
1 |
24338050 |
stop gained |
G/A
|
snv
|
|
|
Van der Woude syndrome 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs770938921
|
1.000 |
0.200 |
1 |
24342712 |
missense variant |
C/T
|
snv
|
2.4E-05
|
7.0E-06
|
VAN DER WOUDE SYNDROME 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs879255243
|
1.000 |
0.120 |
1 |
24347483 |
frameshift variant |
GGAG/-
|
delins
|
|
|
Van der Woude syndrome 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs879255244
|
1.000 |
0.120 |
1 |
24343026 |
splice donor variant |
G/T
|
snv
|
|
|
Van der Woude syndrome 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs879255573
|
1.000 |
0.120 |
1 |
24339684 |
frameshift variant |
-/GT
|
delins
|
|
|
Van der Woude syndrome 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs946439477
|
1.000 |
0.120 |
1 |
24347483 |
missense variant |
G/A
|
snv
|
4.0E-06
|
7.0E-06
|
Van der Woude syndrome 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs41268753
|
0.882 |
0.200 |
1 |
24342967 |
missense variant |
C/T
|
snv
|
2.3E-02
|
2.3E-02
|
Cleft palate, isolated
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.030 |
0.667 |
3 |
2016 |
2018 |
rs41268753
|
0.882 |
0.200 |
1 |
24342967 |
missense variant |
C/T
|
snv
|
2.3E-02
|
2.3E-02
|
Uranostaphyloschisis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
0.030 |
0.667 |
3 |
2016 |
2018 |
rs141193530
|
1.000 |
0.080 |
1 |
24342969 |
missense variant |
C/G
|
snv
|
5.1E-03
|
5.3E-03
|
Skin carcinoma
|
Neoplasms; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2018 |
2018 |
rs2486668
|
0.807 |
0.320 |
1 |
24331573 |
missense variant |
C/G
|
snv
|
0.16
|
0.17
|
Cleft palate, isolated
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.010 |
< 0.001 |
1 |
2016 |
2016 |
rs2486668
|
0.807 |
0.320 |
1 |
24331573 |
missense variant |
C/G
|
snv
|
0.16
|
0.17
|
Congenital cerebral hernia
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs2486668
|
0.807 |
0.320 |
1 |
24331573 |
missense variant |
C/G
|
snv
|
0.16
|
0.17
|
Spina Bifida
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs2486668
|
0.807 |
0.320 |
1 |
24331573 |
missense variant |
C/G
|
snv
|
0.16
|
0.17
|
Encephalocele
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2019 |
2019 |
rs2486668
|
0.807 |
0.320 |
1 |
24331573 |
missense variant |
C/G
|
snv
|
0.16
|
0.17
|
Uranostaphyloschisis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
0.010 |
< 0.001 |
1 |
2016 |
2016 |
rs2486668
|
0.807 |
0.320 |
1 |
24331573 |
missense variant |
C/G
|
snv
|
0.16
|
0.17
|
Cleft Palate
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.010 |
< 0.001 |
1 |
2016 |
2016 |
rs534391501
|
0.925 |
0.200 |
1 |
24334661 |
missense variant |
G/A
|
snv
|
3.1E-04
|
1.7E-04
|
Cleft palate with cleft lip
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs534391501
|
0.925 |
0.200 |
1 |
24334661 |
missense variant |
G/A
|
snv
|
3.1E-04
|
1.7E-04
|
Van der Woude syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs545809
|
0.882 |
0.200 |
1 |
24364274 |
missense variant |
T/A
|
snv
|
0.29
|
0.26
|
Cleft Palate
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.010 |
< 0.001 |
1 |
2016 |
2016 |
rs545809
|
0.882 |
0.200 |
1 |
24364274 |
missense variant |
T/A
|
snv
|
0.29
|
0.26
|
Cleft palate, isolated
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.010 |
< 0.001 |
1 |
2016 |
2016 |
rs545809
|
0.882 |
0.200 |
1 |
24364274 |
missense variant |
T/A
|
snv
|
0.29
|
0.26
|
Uranostaphyloschisis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
0.010 |
< 0.001 |
1 |
2016 |
2016 |