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 |
rs7552506
|
0.925 |
0.240 |
1 |
209796557 |
splice region variant |
G/C
|
snv
|
0.32
|
0.32
|
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
|
0.010 |
1.000 |
1 |
2015 |
2015 |
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 |
|
|
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 |
|
|
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 |
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 |
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 |
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 |
rs886039388
|
0.882 |
0.320 |
1 |
209796501 |
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 |
2002 |
2014 |
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 |
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 |
|
|
rs2235375
|
0.807 |
0.400 |
1 |
209792242 |
intron variant |
G/A;C;T
|
snv
|
3.2E-05;
0.41;
4.3E-04
|
|
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
|
0.010 |
1.000 |
1 |
2015 |
2015 |
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 |
|
|