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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 87492706 | intergenic variant | G/C;T | snv | 0.24 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||||
|
17 | 68450932 | intron variant | T/C | snv | 0.68 | 0.68 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | |||||||||
|
17 | 36493030 | non coding transcript exon variant | T/C | snv | 0.49 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||||
|
5 | 154033830 | missense variant | C/T | snv | 0.68 | 0.65 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | |||||||||
|
3 | 142934670 | non coding transcript exon variant | C/T | snv | 5.7E-02 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
17 | 44252803 | intron variant | A/C | snv | 0.62 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
8 | 23566156 | missense variant | A/G | snv | 0.25 | 0.21 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||
|
15 | 78270761 | intron variant | A/C | snv | 0.42 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||||
|
0.724 | 0.240 | 11 | 5227002 | missense variant | T/A;C;G | snv | 3.5E-03 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
10 | 45507812 | intron variant | AAA/-;AA;AAAA;AAAAA | delins |
|
0.700 | 1.000 | 2 | 2016 | 2017 | |||||||||||
|
19 | 32599365 | intron variant | T/C | snv | 2.0E-02 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | ||||||||||
|
12 | 54292096 | intron variant | C/T | snv | 5.0E-02 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | ||||||||||
|
3 | 171620779 | intron variant | T/A | snv | 0.56 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | ||||||||||
|
13 | 112825506 | missense variant | A/C;G;T | snv | 0.76; 4.0E-06 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||||
|
1.000 | 0.080 | 1 | 39570256 | intron variant | G/T | snv | 0.14 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
11 | 205198 | 3 prime UTR variant | C/A | snv | 0.61 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
1 | 247876149 | missense variant | C/T | snv | 0.31 | 0.26 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | |||||||||
|
6 | 132513379 | upstream gene variant | C/T | snv | 0.37 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||||
|
17 | 78130123 | intron variant | T/G | snv | 0.15 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||||
|
7 | 33041902 | intron variant | A/C;G | snv | 0.34 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||||
|
8 | 41772929 | intron variant | G/A | snv | 0.32 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||||
|
19 | 48874179 | missense variant | G/C | snv | 0.35 | 0.45 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | |||||||||
|
12 | 120719733 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 2 | 2017 | 2019 | |||||||||||
|
1 | 3775434 | frameshift variant | AGCCTAGGGGCTGTGTC/- | delins | 9.2E-03 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | ||||||||||
|
22 | 32503871 | downstream gene variant | T/A;C | snv |
|
0.700 | 1.000 | 2 | 2017 | 2019 |