| 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 | 0.040 | 6 | 32405535 | non coding transcript exon variant | C/T | snv | 0.12 |
|
0.810 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.724 | 0.320 | 20 | 35438203 | 5 prime UTR variant | G/A | snv | 0.47 |
|
0.760 | 1.000 | 2 | 2011 | 2019 | ||||||||
|
1.000 | 0.040 | 9 | 114146866 | intergenic variant | A/G;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||
|
0.827 | 0.200 | 20 | 35437976 | 5 prime UTR variant | G/A | snv | 0.44 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
0.882 | 0.080 | 9 | 4290541 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 2 | 235709582 | intron variant | G/A | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.040 | 12 | 27862037 | regulatory region variant | G/T | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 12 | 123321672 | missense variant | C/T | snv | 0.19 | 0.16 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.040 | 9 | 4295583 | intron variant | A/G | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.040 | 6 | 44809954 | intron variant | A/G | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.040 | 12 | 89933142 | intron variant | G/A | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.040 | 7 | 96089185 | intron variant | A/-;AA;AAA | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.040 | 4 | 1702517 | intron variant | T/C | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.040 | 8 | 8666851 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.040 | 6 | 45177665 | intron variant | C/G | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.040 | 2 | 191807255 | intron variant | A/G | snv | 0.57 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 3 | 65812468 | intron variant | T/A | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 10 | 24300978 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 2 | 33205536 | intron variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.040 | 11 | 28853450 | intron variant | A/C | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.040 | 1 | 91714361 | intron variant | C/T | snv | 4.0E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.040 | 15 | 74325252 | intron variant | T/- | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 2 | 33210282 | intron variant | A/G | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.040 | 17 | 69507360 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.882 | 0.040 | 1 | 103000497 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 |