| 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 | 0.120 | 3 | 42865620 | missense variant | A/C;T | snv | 0.43; 8.3E-03 |
|
0.700 | 1.000 | 3 | 2013 | 2018 | ||||||||
|
9 | 111150273 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 2 | 2016 | 2018 | |||||||||||
|
13 | 40428504 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 2 | 2016 | 2018 | |||||||||||
|
8 | 129611859 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2014 | 2017 | |||||||||||
|
0.925 | 0.160 | 14 | 23120140 | upstream gene variant | A/C;G | snv |
|
0.700 | 1.000 | 2 | 2016 | 2018 | |||||||||
|
0.851 | 0.040 | 13 | 28029870 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 2 | 2016 | 2017 | |||||||||
|
8 | 129601368 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
14 | 25034593 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
16 | 85923808 | upstream gene variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
8 | 129559864 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
3 | 46323369 | intergenic variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
10 | 27068541 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
17 | 59850066 | upstream gene variant | TT/-;T;TTT;TTTT | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
6 | 22343363 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
16 | 85902784 | 5 prime UTR variant | GGCTGCAGGT/-;GGCTGCAGGTGGCTGCAGGT;GGCTGCAGGTGGCTGCAGGTGGCTGCAGGT | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
6 | 31273862 | intron variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
9 | 88920798 | regulatory region variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
16 | 85955858 | regulatory region variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
16 | 85982722 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
15 | 79975053 | upstream gene variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
19 | 13065914 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
8 | 6843366 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
8 | 11979005 | upstream gene variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
19 | 33260946 | intergenic variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
16 | 85976154 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 |