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 | 2 | 19913645 | missense variant | C/A | snv |
|
0.700 | 0 | |||||||||||||
|
0.925 | 2 | 19914054 | synonymous variant | C/T | snv | 1.6E-05 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 2 | 19914054 | synonymous variant | C/T | snv | 1.6E-05 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 2 | 19914229 | missense variant | T/C;G | snv | 8.0E-06; 4.0E-06 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 2 | 19931354 | missense variant | T/C | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.120 | 2 | 19931375 | frameshift variant | G/- | delins | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.120 | 2 | 19931375 | frameshift variant | G/- | delins | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 2 | 19933469 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.925 | 0.120 | 2 | 19933469 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.120 | 2 | 19935529 | missense variant | T/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.160 | 2 | 19941796 | stop gained | A/C | snv | 1.6E-04 | 1.9E-04 |
|
0.700 | 1.000 | 3 | 2013 | 2017 | |||||||
|
0.851 | 0.160 | 2 | 19941796 | stop gained | A/C | snv | 1.6E-04 | 1.9E-04 |
|
0.700 | 1.000 | 3 | 2013 | 2017 | |||||||
|
0.851 | 0.160 | 2 | 19941796 | stop gained | A/C | snv | 1.6E-04 | 1.9E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.700 | 1.000 | 3 | 2013 | 2017 | ||||||
|
0.851 | 0.160 | 2 | 19941796 | stop gained | A/C | snv | 1.6E-04 | 1.9E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.700 | 0 | |||||||||
|
0.925 | 2 | 19941837 | splice acceptor variant | CCTTTAAAGACAAAAAAAAAGTTATGTTTCATT/- | delins |
|
0.700 | 0 | |||||||||||||
|
0.925 | 2 | 19941837 | splice acceptor variant | CCTTTAAAGACAAAAAAAAAGTTATGTTTCATT/- | delins |
|
0.700 | 0 | |||||||||||||
|
2 | 19944070 | intron variant | A/T | snv | 1.9E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.925 | 0.120 | 2 | 19945787 | missense variant | T/C | snv |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.925 | 0.120 | 2 | 19945787 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 2 | 19946495 | stop gained | G/A;C | snv | 1.6E-05; 8.0E-06 |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 2 | 19946536 | missense variant | A/G | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.120 | 2 | 19946536 | missense variant | A/G | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 2 | 19946549 | stop gained | G/A;T | snv | 4.0E-06 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 2 | 19946549 | stop gained | G/A;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 2 | 19951417 | frameshift variant | G/- | del | 8.1E-06 | 1.4E-05 |
|
0.700 | 0 |