| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.160 | 9 | 99150189 | 3 prime UTR variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||||
|
1.000 | 0.080 | 19 | 30454165 | intron variant | G/A | snv | 0.50 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
1.000 | 0.080 | 7 | 127901009 | intron variant | A/G | snv | 9.7E-02 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
1.000 | 0.080 | 20 | 51492442 | intron variant | G/A | snv | 0.65 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
1.000 | 0.080 | 10 | 113099704 | intron variant | G/A | snv | 0.72 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
1.000 | 0.080 | 7 | 127717662 | intron variant | T/C | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.851 | 0.240 | 1 | 203186870 | upstream gene variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.716 | 0.240 | 20 | 56386407 | missense variant | T/C | snv | 0.85 | 0.84 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.627 | 0.640 | 1 | 65570758 | missense variant | A/G | snv | 0.30 | 0.25 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||
|
0.763 | 0.200 | 22 | 38287631 | downstream gene variant | G/C | snv | 0.48 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.120 | 11 | 76194756 | splice region variant | G/A | snv | 0.27 | 0.23 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.200 | 11 | 122155752 | intron variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.200 | 3 | 157429779 | intron variant | A/C | snv | 0.59 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.566 | 0.840 | 5 | 159315942 | 3 prime UTR variant | T/G | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.160 | 3 | 157437525 | missense variant | C/A | snv | 0.64 | 0.64 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.627 | 0.560 | 2 | 201232809 | upstream gene variant | AGTAAG/- | del | 0.48 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 17 | 7674959 | missense variant | G/A;C;T | snv | 4.0E-06; 1.2E-05; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.807 | 0.280 | 17 | 7675157 | missense variant | G/A | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.732 | 0.440 | 1 | 209815925 | intergenic variant | A/G | snv | 0.84 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.160 | 1 | 203187994 | upstream gene variant | G/A | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.120 | 1 | 228003664 | upstream gene variant | G/A | snv | 0.48 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.649 | 0.560 | 7 | 128238730 | upstream gene variant | G/A;C | snv |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||||
|
0.807 | 0.160 | 8 | 128933908 | intron variant | C/A | snv | 0.31 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.120 | 3 | 119993874 | intron variant | A/G | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2019 | 2019 |