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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 88777772 | intron variant | CT/- | delins | 3.9E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 41951438 | intron variant | AGCTACTC/- | delins | 0.59 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 30157034 | missense variant | C/T | snv | 7.3E-03 | 7.3E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
6 | 26072764 | intergenic variant | C/T | snv | 3.8E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
9 | 134069081 | upstream gene variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
3 | 182787040 | intron variant | AAAAAAA/-;AAAAA;AAAAAA;AAAAAAAA;AAAAAAAAA;AAAAAAAAAA;AAAAAAAAAAAAAAAAA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
10 | 45499558 | intron variant | T/C | snv | 1.4E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
5 | 173936886 | intron variant | C/T | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 17 | 32751254 | intron variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
8 | 41808436 | intron variant | G/A | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
15 | 78244813 | intron variant | T/A;C | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 26104404 | downstream gene variant | T/A;C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
22 | 37094652 | intron variant | C/T | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
7 | 17773990 | intergenic variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
14 | 64816958 | intron variant | G/A | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 31446954 | non coding transcript exon variant | C/T | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
5 | 73004636 | intron variant | T/A | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
17 | 78128765 | 5 prime UTR variant | G/C | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
21 | 33753068 | intron variant | A/T | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
16 | 169498 | upstream gene variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
1 | 37943401 | intron variant | A/G | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
19 | 35456988 | intergenic variant | G/A | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
19 | 10582952 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
1 | 172465672 | 3 prime UTR variant | C/A;T | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
8 | 8237439 | intron variant | A/G | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |