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 | 100022093 | intron variant | T/A | snv | 6.9E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.080 | 10 | 100315722 | intron variant | G/A | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
7 | 100334426 | intron variant | C/T | snv | 0.72 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
11 | 100587081 | intergenic variant | A/G | snv | 7.8E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
7 | 100621008 | missense variant | C/T | snv | 2.0E-02 | 2.2E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
11 | 100623264 | intergenic variant | C/T | snv | 8.5E-02 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | ||||||||||
|
7 | 100628224 | splice region variant | C/T | snv | 3.1E-03 | 2.8E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
7 | 100638579 | intron variant | G/A | snv | 0.65 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | ||||||||||
|
7 | 100641799 | intron variant | G/A | snv | 2.8E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
7 | 100642673 | intron variant | A/G | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
11 | 100713940 | intron variant | C/T | snv | 7.0E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
7 | 101065852 | intergenic variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
10 | 101438198 | intron variant | G/A | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
19 | 1014539 | intron variant | TGATGGGGCG/-;TGATGGGGCGTGATGGGGCG | delins |
|
0.700 | 1.000 | 2 | 2016 | 2017 | |||||||||||
|
8 | 102065562 | intron variant | T/C | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
14 | 102148541 | intron variant | AAA/-;A;AA;AAAA;AAAAA;AAAAAA;AAAAAAAAAA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
14 | 102202685 | intron variant | G/A | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
14 | 102229226 | 3 prime UTR variant | A/G | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
4 | 102326283 | intron variant | C/A | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
5 | 1025534 | intron variant | T/C | snv | 1.3E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
13 | 102603946 | intron variant | A/G | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
14 | 102645021 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1.000 | 0.040 | 10 | 102875346 | intron variant | G/A | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
10 | 103186913 | intron variant | AAAA/-;A;AA;AAA;AAAAA;AAAAAA | delins | 0.33 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
14 | 103373661 | downstream gene variant | C/G | snv | 6.5E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |