| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 23933767 | intergenic variant | T/C | snv | 0.97 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
15 | 84921399 | intron variant | T/C | snv | 0.95 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
4 | 45076991 | intergenic variant | G/A | snv | 0.95 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.080 | 6 | 33567689 | intron variant | T/C | snv | 0.95 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1 | 78421523 | intron variant | T/C | snv | 0.95 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.851 | 0.120 | 2 | 146120964 | regulatory region variant | T/C | snv | 0.94 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.120 | 16 | 72963084 | intron variant | C/T | snv | 0.94 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.120 | 7 | 27181212 | 3 prime UTR variant | A/G | snv | 0.93 |
|
0.700 | 1.000 | 2 | 2017 | 2018 | ||||||||
|
7 | 27204343 | intron variant | A/G | snv | 0.93 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
7 | 27206274 | non coding transcript exon variant | T/C | snv | 0.93 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
15 | 48647691 | intron variant | T/G | snv | 0.93 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
16 | 30100583 | intron variant | A/C | snv | 0.93 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
10 | 100792995 | intron variant | G/T | snv | 0.91 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
10 | 100796696 | intron variant | G/A | snv | 0.91 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
7 | 27240226 | intron variant | -/AAAACA;AACA | delins | 0.91 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 234885108 | intron variant | C/T | snv | 0.90 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
5 | 123117450 | intron variant | C/T | snv | 0.90 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
7 | 27203602 | intron variant | C/T | snv | 0.90 |
|
0.700 | 1.000 | 3 | 2016 | 2019 | ||||||||||
|
13 | 73250287 | intergenic variant | C/T | snv | 0.90 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
9 | 109593612 | intron variant | A/G | snv | 0.90 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
12 | 79502039 | intron variant | C/T | snv | 0.89 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
14 | 24219608 | intron variant | G/A | snv | 0.89 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 27443969 | intron variant | T/C | snv | 0.88 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
17 | 48610894 | missense variant | T/C | snv | 0.88 | 0.88 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | |||||||||
|
7 | 27249498 | intron variant | G/A | snv | 0.87 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |