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 | 16 | 14580874 | missense variant | T/C | snv | 8.0E-06 |
|
0.800 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.120 | 16 | 14582225 | missense variant | G/A | snv |
|
0.800 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
16 | 14580347 | intron variant | G/A | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
16 | 14558363 | intron variant | T/C | snv | 1.5E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 16 | 14627161 | missense variant | T/A;C | snv | 4.1E-06; 7.0E-05 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 16 | 14629670 | frameshift variant | A/- | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 16 | 14627189 | splice acceptor variant | T/C | snv | 4.2E-06 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 16 | 14584383 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 16 | 14593300 | splice donor variant | C/A | snv | 8.1E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.120 | 16 | 14593300 | splice donor variant | C/A | snv | 8.1E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 16 | 14608274 | splice donor variant | ACTT/- | delins | 4.6E-05 | 3.5E-05 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 16 | 14582225 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 16 | 14593355 | frameshift variant | -/T | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 16 | 14610669 | stop gained | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
0.925 | 16 | 14609114 | frameshift variant | -/A | delins |
|
0.700 | 0 | |||||||||||||
|
0.925 | 16 | 14609114 | frameshift variant | -/A | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 16 | 14580879 | frameshift variant | A/-;AA | delins | 1.4E-05 |
|
0.700 | 0 |