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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
20 | 36983292 | intergenic variant | -/C | ins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
5 | 1051642 | 3 prime UTR variant | A/C | snv | 1.1E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
10 | 103186913 | intron variant | AAAA/-;A;AA;AAA;AAAAA;AAAAAA | delins | 0.33 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
19 | 57632578 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
14 | 102148541 | intron variant | AAA/-;A;AA;AAAA;AAAAA;AAAAAA;AAAAAAAAAA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
1 | 247859368 | intron variant | A/G | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
3 | 196086886 | upstream gene variant | C/T | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 47570142 | intron variant | TT/-;T;TTT;TTTT | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
19 | 48874988 | synonymous variant | T/C | snv | 0.33 | 0.39 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
19 | 17141231 | intron variant | G/A | snv | 8.1E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.040 | 14 | 77646050 | TF binding site variant | G/A | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
22 | 32500603 | downstream gene variant | C/T | snv | 0.62 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
22 | 28758467 | downstream gene variant | A/G | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
22 | 37067410 | intron variant | C/G;T | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
12 | 7005597 | intron variant | T/C | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
20 | 53937343 | 3 prime UTR variant | C/T | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
14 | 23045026 | downstream gene variant | C/T | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
11 | 44573061 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
20 | 32576112 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
17 | 46556164 | 3 prime UTR variant | G/C | snv | 0.59 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
3 | 132483605 | intron variant | T/A | snv | 0.15 | 0.16 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
3 | 196181840 | intergenic variant | T/C | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
10 | 122918383 | intergenic variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
4 | 143733163 | intron variant | AACA/- | del |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
3 | 172059856 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 |