| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 6 | 27069301 | intergenic variant | C/T | snv | 4.8E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
6 | 26135270 | intron variant | A/G | snv | 0.73 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 26135269 | intron variant | A/-;AA | delins |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
6 | 26125114 | intron variant | C/T | snv | 0.91 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 26116196 | intron variant | G/A | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.800 | 1.000 | 2 | 2010 | 2013 | |||||||
|
0.925 | 0.120 | 6 | 26088662 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.120 | 6 | 26069441 | intergenic variant | T/C | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 6 | 26022978 | downstream gene variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.120 | 6 | 25997230 | intron variant | C/T | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
6 | 25957164 | intergenic variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
16 | 259156 | intron variant | C/A | snv | 0.19 |
|
0.800 | 1.000 | 1 | 2009 | 2017 | ||||||||||
|
0.925 | 0.120 | 6 | 25843518 | intron variant | C/T | snv | 8.9E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
6 | 25842723 | intron variant | T/G | snv | 4.0E-02 |
|
0.800 | 1.000 | 1 | 2009 | 2017 | ||||||||||
|
6 | 25821542 | intron variant | C/T | snv | 6.1E-02 |
|
0.800 | 1.000 | 1 | 2010 | 2012 | ||||||||||
|
6 | 25663957 | intron variant | T/C | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 25640972 | upstream gene variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
6 | 25617063 | intron variant | G/A | snv | 8.2E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 25488355 | intron variant | C/T | snv | 5.9E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
3 | 196082268 | upstream gene variant | G/A | snv | 0.31 |
|
0.800 | 1.000 | 1 | 2009 | 2017 | ||||||||||
|
1.000 | 0.040 | 16 | 190281 | intron variant | A/C;T | snv |
|
0.800 | 1.000 | 1 | 2013 | 2017 | |||||||||
|
6 | 139517282 | intron variant | C/A | snv | 0.41 |
|
0.800 | 1.000 | 1 | 2009 | 2019 | ||||||||||
|
6 | 139514552 | intron variant | C/T | snv | 0.51 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
6 | 135144336 | intergenic variant | T/C | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 135142809 | intergenic variant | C/T | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2012 | 2012 |