| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 19662712 | upstream gene variant | T/C;G | snv |
|
0.700 | 1.000 | 3 | 2016 | 2017 | |||||||||||
|
22 | 40263569 | intron variant | T/C | snv | 0.45 |
|
0.700 | 1.000 | 3 | 2016 | 2017 | ||||||||||
|
1 | 77247749 | upstream gene variant | G/A | snv | 0.11 |
|
0.700 | 1.000 | 3 | 2016 | 2017 | ||||||||||
|
1 | 150278225 | intron variant | G/A | snv | 0.40 |
|
0.700 | 1.000 | 2 | 2016 | 2016 | ||||||||||
|
2 | 54127790 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 2 | 2016 | 2017 | |||||||||||
|
0.882 | 0.080 | 2 | 66523432 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 2 | 2017 | 2018 | |||||||||
|
1 | 62114219 | missense variant | G/A;T | snv | 4.0E-06; 5.9E-02 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | ||||||||||
|
7 | 102518368 | upstream gene variant | G/A | snv |
|
0.700 | 1.000 | 2 | 2016 | 2016 | |||||||||||
|
12 | 120557086 | intron variant | AAAAAAAAAA/-;AAA;AAAA;AAAAA;AAAAAA;AAAAAAA;AAAAAAAA;AAAAAAAAA;AAAAAAAAAAA;AAAAAAAAAAAA;AAAAAAAAAAAAA;AAAAAAAAAAAAAAAAA | delins |
|
0.700 | 1.000 | 2 | 2016 | 2017 | |||||||||||
|
1 | 182599069 | 3 prime UTR variant | G/C | snv | 0.96 |
|
0.700 | 1.000 | 2 | 2017 | 2017 | ||||||||||
|
5 | 153174146 | intron variant | C/T | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 105687806 | intergenic variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1 | 77260556 | intergenic variant | C/T | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 150278123 | intron variant | T/A;C | snv | 0.60 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
11 | 66312552 | upstream gene variant | A/G | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 7776599 | non coding transcript exon variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
9 | 82878125 | intergenic variant | C/G | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 77234511 | intergenic variant | G/C | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 238543741 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
2 | 197591586 | intron variant | C/A | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 182600491 | missense variant | T/A;C;G | snv | 0.98 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
17 | 17494964 | 3 prime UTR variant | G/A | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 198090050 | intron variant | C/T | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
3 | 55900911 | intron variant | G/A | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
3 | 77194454 | intron variant | T/G | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |