Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 4 | 39273029 | missense variant | G/A | snv | 5.5E-05 | 1.5E-04 |
|
0.800 | 1.000 | 5 | 2013 | 2017 | ||||||||
|
0.882 | 4 | 39273029 | missense variant | G/A | snv | 5.5E-05 | 1.5E-04 |
|
0.700 | 1.000 | 4 | 2013 | 2017 | ||||||||
|
0.925 | 4 | 39228692 | splice donor variant | T/C | snv | 2.2E-05 | 7.0E-06 |
|
0.700 | 1.000 | 3 | 2011 | 2013 | ||||||||
|
0.925 | 4 | 39228692 | splice donor variant | T/C | snv | 2.2E-05 | 7.0E-06 |
|
0.700 | 1.000 | 3 | 2011 | 2013 | ||||||||
|
0.882 | 4 | 39273029 | missense variant | G/A | snv | 5.5E-05 | 1.5E-04 |
|
0.700 | 1.000 | 3 | 2013 | 2016 | ||||||||
|
1.000 | 4 | 39205660 | missense variant | C/G;T | snv | 4.1E-06; 2.9E-05 |
|
0.700 | 1.000 | 2 | 2013 | 2013 | |||||||||
|
0.807 | 0.200 | 4 | 39231943 | missense variant | T/C | snv | 1.2E-05 | 2.8E-05 |
|
0.800 | 1.000 | 2 | 2013 | 2013 | |||||||
|
1.000 | 4 | 39218103 | missense variant | G/C | snv | 7.0E-06 |
|
0.800 | 1.000 | 2 | 2013 | 2013 | |||||||||
|
0.925 | 4 | 39274945 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 |
|
0.700 | 1.000 | 2 | 2013 | 2013 | ||||||||
|
0.882 | 0.120 | 4 | 39205626 | frameshift variant | -/A | delins | 3.6E-05 | 4.2E-05 |
|
0.700 | 1.000 | 2 | 2013 | 2013 | |||||||
|
0.882 | 0.120 | 4 | 39205626 | frameshift variant | -/A | delins | 3.6E-05 | 4.2E-05 |
|
0.700 | 1.000 | 2 | 2013 | 2013 | |||||||
|
1.000 | 4 | 39194579 | missense variant | G/A | snv | 8.1E-06 | 2.1E-05 |
|
0.700 | 1.000 | 2 | 2013 | 2013 | ||||||||
|
1.000 | 4 | 39185807 | missense variant | G/C;T | snv | 6.2E-06 |
|
0.700 | 1.000 | 2 | 2013 | 2013 | |||||||||
|
0.807 | 0.200 | 4 | 39231943 | missense variant | T/C | snv | 1.2E-05 | 2.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
0.807 | 0.200 | 4 | 39231943 | missense variant | T/C | snv | 1.2E-05 | 2.8E-05 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.807 | 0.200 | 4 | 39231943 | missense variant | T/C | snv | 1.2E-05 | 2.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1.000 | 4 | 39185739 | missense variant | T/C | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1.000 | 4 | 39215913 | missense variant | T/G | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1.000 | 0.120 | 4 | 39274959 | splice donor variant | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 4 | 39224887 | missense variant | G/C | snv | 8.3E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 4 | 39199546 | missense variant | G/A | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 4 | 39205592 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 4 | 39215958 | frameshift variant | G/- | delins |
|
0.700 | 0 | |||||||||||||
|
0.925 | 4 | 39215958 | frameshift variant | G/- | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.080 | 4 | 39272978 | splice acceptor variant | A/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 |