| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.080 | 15 | 58391167 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 4 | 2009 | 2018 | |||||||||
|
1 | 62652525 | intron variant | A/C;T | snv |
|
0.800 | 1.000 | 3 | 2009 | 2019 | |||||||||||
|
0.851 | 0.120 | 2 | 43845437 | intron variant | G/C;T | snv |
|
0.800 | 1.000 | 3 | 2010 | 2019 | |||||||||
|
0.763 | 0.240 | 1 | 55030366 | intergenic variant | T/A;C;G | snv |
|
0.700 | 1.000 | 2 | 2012 | 2013 | |||||||||
|
0.776 | 0.160 | 12 | 120978847 | missense variant | A/C;T | snv | 0.35 |
|
0.800 | 1.000 | 2 | 2010 | 2018 | ||||||||
|
0.790 | 0.240 | 16 | 56961324 | upstream gene variant | C/A;G | snv | 0.51; 5.7E-06 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | ||||||||
|
0.925 | 0.040 | 7 | 44539581 | synonymous variant | G/A;C | snv | 4.0E-06; 0.25 |
|
0.800 | 1.000 | 2 | 2010 | 2017 | ||||||||
|
0.790 | 0.160 | 19 | 11100236 | stop gained | C/A;G;T | snv | 1.6E-05; 8.9E-02 |
|
0.800 | 1.000 | 2 | 2009 | 2019 | ||||||||
|
10 | 112174128 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 2 | 2010 | 2019 | |||||||||||
|
6 | 34578783 | upstream gene variant | C/G;T | snv |
|
0.800 | 1.000 | 2 | 2010 | 2018 | |||||||||||
|
11 | 116748357 | 3 prime UTR variant | C/G;T | snv |
|
0.800 | 1.000 | 2 | 2012 | 2019 | |||||||||||
|
20 | 40462847 | regulatory region variant | A/G;T | snv |
|
0.800 | 1.000 | 2 | 2010 | 2013 | |||||||||||
|
0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 |
|
0.800 | 1.000 | 2 | 2012 | 2018 | ||||||||
|
15 | 58438299 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 2 | 2012 | 2013 | |||||||||||
|
0.724 | 0.360 | 1 | 109279544 | downstream gene variant | G/A;C | snv |
|
0.800 | 1.000 | 2 | 2012 | 2019 | |||||||||
|
0.882 | 0.160 | 9 | 133279427 | upstream gene variant | T/A;C | snv |
|
0.800 | 1.000 | 2 | 2010 | 2019 | |||||||||
|
18 | 49634583 | intergenic variant | G/A;T | snv |
|
0.800 | 1.000 | 2 | 2010 | 2018 | |||||||||||
|
16 | 56972678 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 2 | 2012 | 2019 | |||||||||||
|
1 | 92543881 | intron variant | C/A;G | snv |
|
0.800 | 1.000 | 2 | 2010 | 2018 | |||||||||||
|
11 | 116851325 | intron variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
0.790 | 0.200 | 2 | 21002881 | stop gained | C/A;T | snv | 8.0E-06; 0.15 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 11 | 116793324 | upstream gene variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1 | 62606594 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
1 | 20074498 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
16 | 56973534 | intron variant | T/A;G | snv | 2.4E-05; 0.22 |
|
0.700 | 1.000 | 1 | 2012 | 2012 |