| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 21 | 33026408 | 5 prime UTR variant | C/T | snv | 0.73 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.160 | 10 | 103900115 | missense variant | C/G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
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 | ||||||||
|
0.882 | 0.160 | 10 | 103898989 | missense variant | C/A;T | snv | 4.0E-06; 2.4E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.120 | 21 | 33029641 | intron variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 12 | 120691123 | intron variant | C/T | snv | 0.34 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 12 | 117236324 | intron variant | C/G | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 8 | 64379319 | intron variant | A/G | snv | 1.0E-04 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 2 | 113241628 | missense variant | C/G;T | snv | 2.4E-04 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.807 | 0.280 | 12 | 117215033 | 3 prime UTR variant | G/A | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.742 | 0.520 | 1 | 206771966 | intron variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
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 | |||||||||
|
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 | |||||||
|
0.790 | 0.320 | 6 | 106140931 | intron variant | A/C | snv | 0.61 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.641 | 0.680 | 11 | 34438684 | upstream gene variant | C/T | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.280 | 4 | 87982701 | synonymous variant | C/G;T | snv | 0.32 | 0.26 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.080 | 4 | 87977789 | non coding transcript exon variant | C/T | snv | 0.54 | 0.46 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.040 | 13 | 110291574 | intron variant | C/T | snv | 0.84 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.600 | 0.680 | 6 | 31574705 | upstream gene variant | C/T | snv | 8.5E-02 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 13 | 110229026 | intron variant | C/T | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.200 | 4 | 87975096 | non coding transcript exon variant | G/T | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2016 | 2016 |