| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 25842723 | intron variant | T/G | snv | 4.0E-02 |
|
0.800 | 1.000 | 1 | 2009 | 2017 | ||||||||||
|
1.000 | 0.080 | 16 | 134391 | intron variant | T/G | snv | 2.0E-02 |
|
0.800 | 1.000 | 1 | 2013 | 2017 | ||||||||
|
0.925 | 0.120 | 6 | 26088662 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
6 | 25640972 | upstream gene variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
6 | 135144336 | intergenic variant | T/C | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
22 | 37089684 | missense variant | T/C | snv | 0.38 | 0.40 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
22 | 37074184 | intron variant | T/C | snv | 0.61 |
|
0.800 | 1.000 | 1 | 2009 | 2017 | ||||||||||
|
15 | 65513051 | intron variant | T/C | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
22 | 32470947 | upstream gene variant | T/C | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
22 | 37028807 | non coding transcript exon variant | T/C | snv | 0.31 |
|
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 | ||||||||
|
0.851 | 0.320 | 6 | 135097880 | intron variant | T/C | snv | 0.20 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
6 | 25663957 | intron variant | T/C | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.925 | 0.080 | 6 | 135111414 | intergenic variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
22 | 37042611 | regulatory region variant | G/T | snv | 0.47 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
22 | 37057216 | intron variant | G/T | snv | 9.5E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 41937537 | intron variant | G/A;T | snv |
|
0.800 | 1.000 | 1 | 2010 | 2012 | |||||||||||
|
0.925 | 0.120 | 6 | 26022978 | downstream gene variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
6 | 135131014 | intergenic variant | G/A;C;T | snv |
|
0.800 | 1.000 | 1 | 2010 | 2012 | |||||||||||
|
0.851 | 0.160 | 22 | 37073551 | missense variant | G/A;C | snv | 0.53; 4.0E-06 |
|
0.800 | 1.000 | 1 | 2009 | 2012 | ||||||||
|
6 | 41957421 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2009 | 2018 | |||||||||||
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.800 | 1.000 | 2 | 2010 | 2013 | |||||||
|
9 | 4856877 | intron variant | G/A | snv | 0.15 |
|
0.800 | 1.000 | 1 | 2009 | 2017 | ||||||||||
|
3 | 196082268 | upstream gene variant | G/A | snv | 0.31 |
|
0.800 | 1.000 | 1 | 2009 | 2017 | ||||||||||
|
6 | 135074410 | intron variant | G/A | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2012 | 2012 |