rs121434227
|
1.000 |
0.240 |
1 |
209796476 |
missense variant |
C/A;T
|
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
|
0.810 |
1.000 |
4 |
2002 |
2010 |
rs387906968
|
1.000 |
0.240 |
1 |
209788553 |
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
|
0.810 |
1.000 |
4 |
2002 |
2010 |
rs1553247774
|
0.882 |
0.320 |
1 |
209790806 |
missense variant |
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
|
0.800 |
1.000 |
10 |
2002 |
2010 |
rs121434229
|
0.925 |
0.200 |
1 |
209801280 |
missense variant |
C/T
|
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
|
0.800 |
1.000 |
8 |
2002 |
2009 |
rs121434230
|
0.925 |
0.200 |
1 |
209788638 |
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
|
0.800 |
1.000 |
8 |
2002 |
2009 |
rs121434231
|
0.925 |
0.320 |
1 |
209790539 |
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
|
0.800 |
1.000 |
8 |
2002 |
2009 |
rs28942093
|
1.000 |
0.200 |
1 |
209801409 |
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
|
0.800 |
1.000 |
8 |
2002 |
2009 |
rs28942094
|
0.851 |
0.400 |
1 |
209801398 |
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
|
0.800 |
1.000 |
8 |
2002 |
2009 |
rs28942095
|
1.000 |
0.200 |
1 |
209788626 |
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
|
0.800 |
1.000 |
8 |
2002 |
2009 |
rs387906967
|
0.925 |
0.320 |
1 |
209801349 |
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
|
0.800 |
1.000 |
8 |
2002 |
2009 |
rs121434226
|
0.882 |
0.320 |
1 |
209796477 |
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
|
0.800 |
1.000 |
7 |
2002 |
2014 |
rs387906967
|
0.925 |
0.320 |
1 |
209801349 |
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
|
0.800 |
1.000 |
4 |
2002 |
2010 |
rs2235371
|
0.752 |
0.360 |
1 |
209790735 |
missense variant |
C/T
|
snv
|
8.7E-02
|
3.9E-02
|
Cleft upper lip
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
0.740 |
1.000 |
5 |
2004 |
2015 |
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 |
rs776236749
|
1.000 |
0.200 |
1 |
209796519 |
missense variant |
C/T
|
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 |
1.000 |
8 |
2002 |
2009 |
rs1553247595
|
0.882 |
0.320 |
1 |
209788590 |
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 |
1.000 |
5 |
2002 |
2015 |
rs121434226
|
0.882 |
0.320 |
1 |
209796477 |
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 |
1.000 |
4 |
2008 |
2014 |
rs121434226
|
0.882 |
0.320 |
1 |
209796477 |
missense variant |
G/A
|
snv
|
|
|
OROFACIAL CLEFT 6, SUSCEPTIBILITY TO
|
|
0.700 |
1.000 |
4 |
2008 |
2014 |
rs1553247595
|
0.882 |
0.320 |
1 |
209788590 |
stop gained |
G/A
|
snv
|
|
|
OROFACIAL CLEFT 6, SUSCEPTIBILITY TO
|
|
0.700 |
1.000 |
4 |
2002 |
2015 |
rs1553247595
|
0.882 |
0.320 |
1 |
209788590 |
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 |
1.000 |
4 |
2002 |
2015 |
rs1553247774
|
0.882 |
0.320 |
1 |
209790806 |
missense variant |
C/T
|
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 |
1.000 |
4 |
2002 |
2010 |
rs1553247774
|
0.882 |
0.320 |
1 |
209790806 |
missense variant |
C/T
|
snv
|
|
|
OROFACIAL CLEFT 6, SUSCEPTIBILITY TO
|
|
0.700 |
1.000 |
4 |
2002 |
2010 |
rs1553248641
|
0.882 |
0.320 |
1 |
209801389 |
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 |
1.000 |
3 |
2004 |
2017 |
rs1553248641
|
0.882 |
0.320 |
1 |
209801389 |
missense variant |
G/A
|
snv
|
|
|
OROFACIAL CLEFT 6, SUSCEPTIBILITY TO
|
|
0.700 |
1.000 |
3 |
2004 |
2017 |
rs1553248641
|
0.882 |
0.320 |
1 |
209801389 |
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 |
1.000 |
3 |
2004 |
2017 |