| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.763 | 0.360 | 1 | 159204893 | 5 prime UTR variant | T/C | snv | 0.25 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||
|
1 | 150611627 | intron variant | G/T | snv | 0.16 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||||
|
1 | 185422035 | regulatory region variant | G/A | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 92300881 | intron variant | G/A | snv | 1.7E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 117619797 | intron variant | C/G | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.724 | 0.240 | 1 | 159205564 | missense variant | G/A | snv | 0.51 | 0.66 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 92550671 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
1 | 92287779 | intron variant | T/C | snv | 1.3E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 109892706 | upstream gene variant | G/A | snv | 7.9E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 42956286 | intron variant | GCCTGTAATCCCAG/- | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
1 | 225708104 | intron variant | G/A | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 212617344 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1 | 109928142 | intron variant | G/A | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 159205704 | missense variant | C/T | snv | 1.1E-02 | 9.9E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1 | 100640978 | non coding transcript exon variant | G/A | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 52864786 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
1 | 244324625 | intergenic variant | T/C | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 235943941 | upstream gene variant | A/C | snv | 0.93 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 26327482 | intron variant | AAAAAAA/-;AAAA;AAAAA;AAAAAA;AAAAAAAA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
1 | 205798757 | synonymous variant | G/A | snv | 0.30 | 0.29 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1 | 56171209 | intron variant | C/T | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 9651584 | upstream gene variant | A/G | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.080 | 2 | 181454574 | upstream gene variant | C/T | snv | 0.56 |
|
0.700 | 1.000 | 3 | 2011 | 2018 | ||||||||
|
2 | 181463487 | intron variant | G/A | snv | 0.55 |
|
0.700 | 1.000 | 3 | 2013 | 2017 | ||||||||||
|
2 | 224888625 | intron variant | A/G | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |