| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 43382233 | intron variant | TAAAAGAAAAA/-;TAAAAGAAAAATAAAAGAAAAA | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
16 | 56978467 | intron variant | T/G | snv | 0.36 |
|
0.800 | 1.000 | 3 | 2011 | 2019 | ||||||||||
|
0.807 | 0.360 | 7 | 50266267 | upstream gene variant | T/G | snv | 0.26 |
|
0.800 | 1.000 | 3 | 2013 | 2018 | ||||||||
|
1 | 156730859 | intron variant | T/G | snv | 0.24 |
|
0.800 | 1.000 | 2 | 2013 | 2017 | ||||||||||
|
0.763 | 0.320 | 12 | 110976657 | intergenic variant | T/G | snv | 4.8E-03 |
|
0.800 | 1.000 | 2 | 2011 | 2019 | ||||||||
|
0.882 | 0.200 | 7 | 80671133 | stop gained | T/G | snv | 6.2E-03 | 2.6E-02 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | |||||||
|
1 | 230171476 | intron variant | T/G | snv | 0.72 |
|
0.700 | 1.000 | 2 | 2015 | 2018 | ||||||||||
|
1.000 | 0.040 | 2 | 20983311 | regulatory region variant | T/G | snv | 0.27 |
|
0.800 | 1.000 | 2 | 2009 | 2019 | ||||||||
|
16 | 56983090 | intron variant | T/G | snv | 0.10 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | ||||||||||
|
1.000 | 0.080 | 19 | 44825957 | downstream gene variant | T/G | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 19 | 44644419 | intron variant | T/G | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
22 | 21574627 | intron variant | T/G | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
9 | 104921949 | intron variant | T/G | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
8 | 125472284 | intron variant | T/G | snv | 0.76 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
18 | 49592553 | 3 prime UTR variant | T/G | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
17 | 78381401 | intron variant | T/G | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
17 | 68886325 | intron variant | T/G | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 62658794 | intron variant | T/G | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
18 | 49940996 | intron variant | T/G | snv | 1.4E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
16 | 67970889 | upstream gene variant | T/G | snv | 2.2E-04 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
X | 110473179 | intron variant | T/G | snv | 0.47 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
11 | 110145794 | intron variant | T/G | snv | 0.69 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
6 | 34205553 | regulatory region variant | T/G | snv | 3.9E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
7 | 73584775 | intergenic variant | T/G | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.040 | 16 | 56968820 | intron variant | T/G | snv | 0.75 |
|
0.800 | 1.000 | 1 | 2012 | 2018 |