| 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 | 13 | 110229026 | intron variant | C/T | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.120 | 2 | 113241628 | missense variant | C/G;T | snv | 2.4E-04 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.807 | 0.200 | 7 | 22728630 | non coding transcript exon variant | G/T | snv | 9.4E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.724 | 0.520 | 7 | 22728408 | intron variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.827 | 0.240 | 2 | 70450862 | synonymous variant | G/A | snv | 0.24 | 0.23 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.807 | 0.280 | 12 | 117215033 | 3 prime UTR variant | G/A | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 17 | 36065936 | intron variant | G/A | snv | 0.60 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.200 | 4 | 87975096 | non coding transcript exon variant | G/T | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.160 | 4 | 87976662 | intron variant | C/T | snv | 0.34 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.742 | 0.520 | 1 | 206771966 | intron variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.562 | 0.760 | 6 | 31575324 | upstream gene variant | G/A | snv | 4.6E-02 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 12 | 117232109 | synonymous variant | G/A | snv | 0.22 | 0.22 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.040 | 8 | 9903310 | non coding transcript exon variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.667 | 0.480 | 19 | 44905579 | upstream gene variant | T/G | snv | 0.58 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.590 | 0.600 | 19 | 44908684 | missense variant | T/C | snv | 0.14 | 0.16 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.752 | 0.360 | 4 | 87981540 | missense variant | T/A;C | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.776 | 0.360 | 1 | 11790308 | 3 prime UTR variant | T/A;G | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.851 | 0.080 | 19 | 44893408 | intron variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.080 | 21 | 33025263 | intron variant | T/C | snv | 0.33 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.120 | 21 | 33028471 | 3 prime UTR variant | T/C | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.320 | 6 | 106140931 | intron variant | A/C | snv | 0.61 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.160 | 10 | 103898989 | missense variant | C/A;T | snv | 4.0E-06; 2.4E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.120 | 19 | 44905371 | upstream gene variant | T/C | snv | 7.0E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.040 | 12 | 120694297 | intron variant | C/T | snv | 7.3E-05; 0.43 | 0.49 |
|
0.010 | 1.000 | 1 | 2018 | 2018 |