| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 59883111 | intergenic variant | A/T | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||||
|
19 | 46291989 | intergenic variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
19 | 46292921 | upstream gene variant | G/A | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
19 | 46291810 | intergenic variant | T/C | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
19 | 46291914 | intergenic variant | T/C | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
19 | 46288677 | regulatory region variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
0.776 | 0.160 | 19 | 8364439 | missense variant | G/A | snv | 1.3E-02 | 1.5E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
19 | 46294033 | upstream gene variant | A/G | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
19 | 46294038 | upstream gene variant | A/G | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
18 | 50446052 | intergenic variant | A/G | snv | 5.7E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
18 | 50502045 | intergenic variant | T/C | snv | 5.8E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
19 | 46293976 | upstream gene variant | T/C | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
19 | 46291277 | intergenic variant | -/T | delins | 0.12 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
18 | 50057046 | intron variant | A/C | snv | 1.0E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
18 | 50386938 | intron variant | T/C | snv | 1.3E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.851 | 0.160 | 11 | 61803876 | 5 prime UTR variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
20 | 45438925 | intron variant | T/C | snv | 3.0E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
18 | 49569492 | missense variant | C/T | snv | 1.7E-04 | 2.7E-04 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
19 | 46291852 | intergenic variant | C/A | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
3 | 192376186 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2008 | 2008 | |||||||||||
|
1.000 | 0.040 | 15 | 58382496 | intron variant | G/C | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
18 | 50009408 | intron variant | A/G | snv | 1.0E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
18 | 49817040 | intron variant | T/A | snv | 1.7E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
18 | 50159516 | intron variant | A/T | snv | 1.0E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
18 | 49940996 | intron variant | T/G | snv | 1.4E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 |