rs7802
|
1.000 |
|
1 |
209785814 |
3 prime UTR variant |
A/G
|
snv
|
|
7.0E-04
|
Agenesis
|
|
0.010 |
1.000 |
1 |
2007 |
2007 |
rs1044516
|
1.000 |
0.080 |
1 |
209786269 |
3 prime UTR variant |
G/T
|
snv
|
|
0.23
|
Cleft upper lip
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs1558038218
|
0.882 |
0.320 |
1 |
209788500 |
frameshift variant |
GGTACAGCTGC/-
|
delins
|
|
|
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 |
1 |
2009 |
2009 |
rs1558038218
|
0.882 |
0.320 |
1 |
209788500 |
frameshift variant |
GGTACAGCTGC/-
|
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 |
1.000 |
1 |
2009 |
2009 |
rs1558038218
|
0.882 |
0.320 |
1 |
209788500 |
frameshift variant |
GGTACAGCTGC/-
|
delins
|
|
|
OROFACIAL CLEFT 6, SUSCEPTIBILITY TO
|
|
0.700 |
1.000 |
1 |
2009 |
2009 |
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 |
|
|
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 |
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 |
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 |
rs769068305
|
1.000 |
0.200 |
1 |
209788614 |
missense variant |
C/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 |
1.000 |
1 |
2009 |
2009 |
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 |
|
|
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 |
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 |
|
|
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 |
rs121434230
|
0.925 |
0.200 |
1 |
209788638 |
missense variant |
G/A
|
snv
|
|
|
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 |
2003 |
2003 |
rs2073485
|
1.000 |
0.080 |
1 |
209789449 |
intron variant |
G/A
|
snv
|
|
0.21
|
Cleft upper lip
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
0.700 |
1.000 |
2 |
2010 |
2012 |
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 |
|
|
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 |
|
|
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 |
|
|
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 |
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 |
|
|
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 |
|
|