| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.240 | 19 | 44744370 | upstream gene variant | A/G | snv | 7.7E-02 |
|
0.800 | 1.000 | 1 | 2009 | 2016 | ||||||||
|
2 | 21072103 | intergenic variant | G/A | snv | 0.71 |
|
0.800 | 1.000 | 1 | 2009 | 2018 | ||||||||||
|
0.851 | 0.120 | 1 | 109275684 | 3 prime UTR variant | G/T | snv | 0.74 |
|
0.800 | 1.000 | 1 | 2009 | 2016 | ||||||||
|
16 | 56970977 | intron variant | G/A | snv | 0.34 |
|
0.800 | 1.000 | 1 | 2009 | 2018 | ||||||||||
|
11 | 116813312 | non coding transcript exon variant | T/A;C;G | snv |
|
0.800 | 1.000 | 1 | 2009 | 2012 | |||||||||||
|
16 | 56972678 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 1 | 2009 | 2018 | |||||||||||
|
0.925 | 0.160 | 20 | 45947863 | 3 prime UTR variant | T/C | snv | 0.13 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.827 | 0.120 | 8 | 11187652 | intron variant | G/A;T | snv |
|
0.800 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.776 | 0.240 | 19 | 19296909 | intron variant | T/C | snv | 0.10 |
|
0.800 | 1.000 | 8 | 2010 | 2019 | ||||||||
|
10 | 93079885 | downstream gene variant | G/A | snv | 0.42 |
|
0.800 | 1.000 | 6 | 2010 | 2019 | ||||||||||
|
1 | 62560271 | intron variant | G/T | snv | 0.57 |
|
0.800 | 1.000 | 5 | 2010 | 2019 | ||||||||||
|
15 | 43953733 | intron variant | A/T | snv | 0.13 |
|
0.800 | 1.000 | 5 | 2010 | 2019 | ||||||||||
|
4 | 87109109 | intron variant | G/T | snv | 0.56 |
|
0.800 | 1.000 | 5 | 2010 | 2019 | ||||||||||
|
0.882 | 0.040 | 11 | 116715567 | regulatory region variant | T/C | snv | 0.93 |
|
0.700 | 1.000 | 5 | 2010 | 2019 | ||||||||
|
0.851 | 0.240 | 2 | 21002409 | missense variant | C/T | snv | 0.70 | 0.78 |
|
0.800 | 1.000 | 4 | 2010 | 2019 | |||||||
|
10 | 63267850 | intron variant | A/T | snv | 0.38 |
|
0.800 | 1.000 | 4 | 2010 | 2019 | ||||||||||
|
0.827 | 0.160 | 12 | 57398797 | intron variant | C/T | snv | 0.19 |
|
0.800 | 1.000 | 4 | 2010 | 2018 | ||||||||
|
0.827 | 0.240 | 8 | 18415371 | regulatory region variant | G/A | snv | 0.71 |
|
0.800 | 1.000 | 4 | 2010 | 2019 | ||||||||
|
0.882 | 0.080 | 15 | 58391167 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 4 | 2010 | 2019 | |||||||||
|
0.882 | 0.040 | 2 | 226235982 | intergenic variant | G/T | snv | 0.72 |
|
0.800 | 1.000 | 4 | 2010 | 2018 | ||||||||
|
20 | 45925376 | downstream gene variant | T/A;C;G | snv |
|
0.800 | 1.000 | 4 | 2010 | 2019 | |||||||||||
|
1.000 | 0.080 | 5 | 56565959 | intron variant | C/T | snv | 0.20 |
|
0.800 | 1.000 | 4 | 2010 | 2018 | ||||||||
|
0.882 | 0.160 | 2 | 27525757 | downstream gene variant | A/G | snv | 0.58 |
|
0.800 | 1.000 | 3 | 2010 | 2019 | ||||||||
|
1.000 | 0.080 | 19 | 19678719 | splice region variant | A/G | snv | 0.10 | 0.12 |
|
0.800 | 1.000 | 3 | 2010 | 2019 | |||||||
|
15 | 42391589 | intron variant | G/A | snv | 3.6E-02 |
|
0.800 | 1.000 | 3 | 2010 | 2018 |