| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 46133768 | intron variant | G/C | snv | 0.36 |
|
0.800 | 1.000 | 3 | 2009 | 2018 | ||||||||||
|
4 | 54528005 | intergenic variant | C/T | snv | 0.18 |
|
0.700 | 1.000 | 2 | 2017 | 2018 | ||||||||||
|
22 | 37074184 | intron variant | T/C | snv | 0.61 |
|
0.800 | 1.000 | 2 | 2009 | 2017 | ||||||||||
|
2 | 46127912 | intron variant | A/C | snv | 0.43 |
|
0.700 | 1.000 | 2 | 2012 | 2017 | ||||||||||
|
6 | 44062274 | non coding transcript exon variant | A/G | snv | 0.92 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||||
|
4 | 76492991 | intron variant | T/A;C | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 46126027 | intron variant | A/G | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
3 | 169450583 | intron variant | AAA/-;A;AA;AAAA;AAAAA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
9 | 133252613 | non coding transcript exon variant | G/C | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
7 | 100645788 | intron variant | T/C | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
11 | 47866484 | intergenic variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
15 | 76006403 | intron variant | A/G | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
16 | 70923707 | intron variant | G/A | snv | 3.8E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 10297748 | intron variant | G/C | snv | 5.8E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 46066687 | intron variant | C/T | snv | 7.2E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 2050557 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
17 | 59748211 | intron variant | A/C | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
19 | 40760574 | intron variant | A/G | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 121238062 | intron variant | G/C | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
4 | 69020433 | upstream gene variant | A/T | snv | 0.66 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
7 | 134684558 | intron variant | A/G | snv | 1.9E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
5 | 40494576 | intron variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
8 | 127916000 | intron variant | C/T | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
14 | 64236875 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
12 | 12893277 | intron variant | C/T | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |