| 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 | 53051646 | 3 prime UTR variant | A/G | snv | 0.58 |
|
0.700 | 1.000 | 4 | 2016 | 2019 | ||||||||
|
1.000 | 0.040 | 14 | 103551616 | upstream gene variant | A/G | snv | 0.54 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||
|
0.695 | 0.120 | 12 | 2236129 | intron variant | G/A | snv | 0.36 |
|
0.900 | 0.917 | 2 | 2010 | 2016 | ||||||||
|
1.000 | 0.040 | 10 | 104851081 | intron variant | A/G | snv | 0.74 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
0.925 | 0.120 | 1 | 72474590 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||
|
1.000 | 0.040 | 5 | 165096466 | intron variant | A/C | snv | 0.61 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
1.000 | 0.040 | 10 | 104694914 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 2 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 18 | 53088362 | intron variant | G/A | snv | 0.40 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 2 | 156254801 | non coding transcript exon variant | C/T | snv | 0.73 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
1.000 | 0.040 | 18 | 55431781 | intron variant | G/C | snv | 0.55 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
1.000 | 0.040 | 18 | 37558282 | intron variant | A/G | snv | 0.52 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
1.000 | 0.040 | 9 | 2983774 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||
|
1.000 | 0.040 | 3 | 158562296 | intron variant | T/A | snv | 0.29 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||
|
0.925 | 0.120 | 1 | 197735587 | splice region variant | C/G;T | snv | 4.0E-06; 0.17 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
1.000 | 0.040 | 11 | 31828558 | non coding transcript exon variant | G/T | snv | 0.40 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
0.827 | 0.040 | 3 | 52799203 | intron variant | G/A;C | snv |
|
0.820 | 1.000 | 2 | 2013 | 2019 | |||||||||
|
1.000 | 0.040 | 6 | 142675481 | intron variant | C/A;G | snv | 0.53 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
1.000 | 0.040 | 9 | 23737629 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||
|
1.000 | 0.040 | 5 | 140832953 | intron variant | T/C | snv | 0.59 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||
|
1.000 | 0.040 | 5 | 88707586 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 2 | 2016 | 2018 | |||||||||
|
1.000 | 0.040 | 5 | 165057942 | non coding transcript exon variant | T/G | snv | 0.57 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||
|
1.000 | 0.040 | 10 | 104804166 | intron variant | C/T | snv | 0.15 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
1.000 | 0.040 | 9 | 36999372 | intron variant | C/T | snv | 0.35 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
1.000 | 0.040 | 16 | 6265879 | intron variant | G/A | snv | 0.52 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
1.000 | 0.040 | 16 | 7616400 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 |