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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 9 | 133537464 | missense variant | G/C | snv |
|
0.700 | 1.000 | 2 | 2008 | 2011 | ||||||||||
|
1.000 | 9 | 133537529 | missense variant | G/A | snv | 7.0E-06 |
|
0.800 | 1.000 | 2 | 2008 | 2011 | |||||||||
|
1.000 | 9 | 133538347 | splice acceptor variant | A/G | snv | 4.0E-06 |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 9 | 133539799 | missense variant | G/A;T | snv | 1.3E-05; 1.3E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 9 | 133539799 | missense variant | G/A;T | snv | 1.3E-05; 1.3E-05 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 9 | 133539801 | missense variant | G/A | snv | 6.4E-06 | 2.2E-05 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.080 | 9 | 133539801 | missense variant | G/A | snv | 6.4E-06 | 2.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.080 | 9 | 133540625 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 9 | 133540625 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 9 | 133540660 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 |
|
0.700 | 1.000 | 2 | 2008 | 2011 | ||||||||
|
1.000 | 9 | 133540678 | missense variant | G/A | snv | 2.0E-05 | 3.5E-05 |
|
0.700 | 1.000 | 2 | 2008 | 2011 | ||||||||
|
1.000 | 9 | 133540684 | missense variant | G/A | snv | 2.0E-05 | 2.1E-05 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 9 | 133540980 | missense variant | C/T | snv |
|
0.800 | 1.000 | 2 | 2008 | 2011 | |||||||||
|
0.925 | 0.080 | 9 | 133540980 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.080 | 9 | 133570346 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 9 | 133570346 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 9 | 133570501 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 9 | 133570501 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 |