rs1060499555
|
0.925 |
0.200 |
1 |
209801301 |
missense variant |
A/G
|
snv
|
|
|
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 |
|
|
rs1060499555
|
0.925 |
0.200 |
1 |
209801301 |
missense variant |
A/G
|
snv
|
|
|
Lower lip pit
|
|
0.700 |
|
0 |
|
|
rs1060499555
|
0.925 |
0.200 |
1 |
209801301 |
missense variant |
A/G
|
snv
|
|
|
Cleft palate and bilateral cleft lip
|
|
0.700 |
|
0 |
|
|
rs1185412313
|
0.925 |
0.200 |
1 |
209789740 |
missense variant |
A/G
|
snv
|
4.0E-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 |
|
|
rs1185412313
|
0.925 |
0.200 |
1 |
209789740 |
missense variant |
A/G
|
snv
|
4.0E-06
|
|
OROFACIAL CLEFT 6, SUSCEPTIBILITY TO
|
|
0.700 |
|
0 |
|
|
rs121434224
|
1.000 |
0.200 |
1 |
209796453 |
stop gained |
C/A
|
snv
|
|
|
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 |
|
|
rs121434225
|
1.000 |
0.240 |
1 |
209789669 |
stop gained |
G/A
|
snv
|
|
|
Popliteal pterygium syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Musculoskeletal Diseases; Male Urogenital Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs121434228
|
1.000 |
0.200 |
1 |
209789709 |
stop gained |
C/T
|
snv
|
|
|
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 |
|
|
rs121434231
|
0.925 |
0.320 |
1 |
209790539 |
missense variant |
C/A
|
snv
|
|
|
Popliteal pterygium syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Musculoskeletal Diseases; Male Urogenital Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs1553247602
|
1.000 |
0.200 |
1 |
209788629 |
frameshift variant |
C/-
|
delins
|
|
|
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 |
|
|
rs1553247877
|
1.000 |
0.200 |
1 |
209792277 |
missense variant |
G/A
|
snv
|
|
|
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 |
|
|
rs1553248271
|
1.000 |
0.200 |
1 |
209796495 |
missense variant |
T/C
|
snv
|
|
|
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 |
|
|
rs1553248635
|
1.000 |
0.200 |
1 |
209801294 |
missense variant |
C/A
|
snv
|
|
|
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 |
|
|
rs200166664
|
1.000 |
0.200 |
1 |
209788625 |
missense variant |
C/A;G;T
|
snv
|
|
|
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 |
|
|
rs28942094
|
0.851 |
0.400 |
1 |
209801398 |
missense variant |
G/A
|
snv
|
|
|
Popliteal pterygium syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Musculoskeletal Diseases; Male Urogenital Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs28942094
|
0.851 |
0.400 |
1 |
209801398 |
missense variant |
G/A
|
snv
|
|
|
Uranostaphyloschisis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs28942094
|
0.851 |
0.400 |
1 |
209801398 |
missense variant |
G/A
|
snv
|
|
|
OROFACIAL CLEFT 6, SUSCEPTIBILITY TO
|
|
0.700 |
|
0 |
|
|
rs397515434
|
1.000 |
0.200 |
1 |
209801269 |
stop gained |
G/A
|
snv
|
|
|
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 |
|
|
rs587776569
|
1.000 |
0.200 |
1 |
209790667 |
protein altering variant |
GTCCAGCAGCTTGCTAGTG/T
|
delins
|
|
|
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 |
|
|
rs781506407
|
1.000 |
0.200 |
1 |
209790494 |
splice donor variant |
C/A;T
|
snv
|
|
|
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 |
|
|
rs886038202
|
1.000 |
0.240 |
1 |
209788508 |
missense variant |
A/G
|
snv
|
|
|
Popliteal pterygium syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Musculoskeletal Diseases; Male Urogenital Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs2235375
|
0.807 |
0.400 |
1 |
209792242 |
intron variant |
G/A;C;T
|
snv
|
3.2E-05;
0.41;
4.3E-04
|
|
Cleft upper lip
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
0.020 |
0.500 |
2 |
2015 |
2018 |
rs2235375
|
0.807 |
0.400 |
1 |
209792242 |
intron variant |
G/A;C;T
|
snv
|
3.2E-05;
0.41;
4.3E-04
|
|
Cleft lip or lips
|
|
0.020 |
0.500 |
2 |
2015 |
2018 |
rs2235371
|
0.752 |
0.360 |
1 |
209790735 |
missense variant |
C/T
|
snv
|
8.7E-02
|
3.9E-02
|
Uranostaphyloschisis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
0.030 |
0.667 |
3 |
2009 |
2019 |
rs2235371
|
0.752 |
0.360 |
1 |
209790735 |
missense variant |
C/T
|
snv
|
8.7E-02
|
3.9E-02
|
Cleft Palate
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.730 |
0.750 |
4 |
2009 |
2019 |