| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||
|
1.000 | 0.160 | 3 | 30671634 | splice region variant | T/A;C | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.160 | 3 | 30691329 | intron variant | C/A | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.160 | 3 | 30691465 | missense variant | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.160 | 3 | 30691437 | inframe deletion | ACGTTGACTGAG/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.160 | 5 | 128349391 | missense variant | C/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.716 | 0.280 | 9 | 99138006 | stop gained | C/A;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.240 | 11 | 2571328 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.280 | 14 | 74555629 | stop gained | G/A;T | snv | 2.1E-05; 4.2E-06 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.200 | 14 | 74551108 | stop gained | G/A;C | snv | 4.0E-06 |
|
0.710 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.742 | 0.200 | 15 | 48537629 | missense variant | G/A | snv |
|
0.800 | 1.000 | 37 | 1993 | 2019 | |||||||||
|
0.925 | 0.160 | 15 | 48489896 | missense variant | C/G;T | snv |
|
0.800 | 1.000 | 37 | 1993 | 2017 | |||||||||
|
0.925 | 0.160 | 15 | 48503845 | stop gained | G/A;C;T | snv | 7.6E-04 |
|
0.800 | 1.000 | 37 | 1993 | 2017 | ||||||||
|
0.790 | 0.280 | 15 | 48437026 | missense variant | T/C | snv |
|
0.820 | 1.000 | 36 | 1993 | 2017 | |||||||||
|
0.925 | 0.160 | 15 | 48489947 | missense variant | A/G | snv | 7.0E-06 |
|
0.800 | 1.000 | 35 | 1993 | 2017 | ||||||||
|
0.925 | 0.160 | 15 | 48432943 | missense variant | C/G;T | snv |
|
0.800 | 1.000 | 34 | 1993 | 2017 | |||||||||
|
1.000 | 0.160 | 15 | 48596292 | missense variant | A/G | snv |
|
0.800 | 1.000 | 34 | 1993 | 2017 | |||||||||
|
0.925 | 0.160 | 15 | 48483931 | missense variant | C/T | snv |
|
0.800 | 1.000 | 33 | 1993 | 2017 | |||||||||
|
0.851 | 0.160 | 15 | 48488233 | missense variant | C/T | snv |
|
0.810 | 1.000 | 33 | 1993 | 2017 | |||||||||
|
1.000 | 0.160 | 15 | 48510115 | missense variant | T/A | snv |
|
0.810 | 1.000 | 31 | 1993 | 2017 | |||||||||
|
0.790 | 0.280 | 15 | 48600217 | missense variant | G/A | snv |
|
0.810 | 1.000 | 31 | 1993 | 2017 | |||||||||
|
0.925 | 0.160 | 15 | 48428423 | missense variant | C/G;T | snv |
|
0.800 | 1.000 | 30 | 1993 | 2017 | |||||||||
|
1.000 | 0.160 | 15 | 48483910 | missense variant | C/G | snv |
|
0.800 | 1.000 | 30 | 1993 | 2017 |