rs760026775
|
1.000 |
0.200 |
3 |
189894389 |
missense variant |
T/C
|
snv
|
4.0E-06
|
7.0E-06
|
Hay-Wells syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.020 |
1.000 |
2 |
2005 |
2012 |
rs121908842
|
1.000 |
0.200 |
3 |
189890795 |
missense variant |
A/T
|
snv
|
|
|
Hay-Wells syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.800 |
1.000 |
1 |
2001 |
2001 |
rs121908843
|
1.000 |
0.200 |
3 |
189890817 |
missense variant |
T/G
|
snv
|
|
|
Hay-Wells syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.800 |
1.000 |
1 |
2001 |
2001 |
rs121908845
|
0.925 |
0.200 |
3 |
189889478 |
missense variant |
T/C
|
snv
|
|
|
Hay-Wells syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.710 |
1.000 |
1 |
2010 |
2010 |
rs113993963
|
0.925 |
0.240 |
3 |
189789816 |
missense variant |
A/C
|
snv
|
|
|
Hay-Wells syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs113993966
|
0.925 |
0.240 |
3 |
189868596 |
missense variant |
C/G
|
snv
|
|
|
Hay-Wells syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs113993967
|
0.851 |
0.240 |
3 |
189868597 |
missense variant |
G/A
|
snv
|
|
|
Hay-Wells syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs113993964
|
1.000 |
0.200 |
3 |
189894305 |
frameshift variant |
C/-
|
del
|
|
|
Hay-Wells syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|