| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 234722850 | upstream gene variant | A/T | snv | 0.62 |
|
0.800 | 1.000 | 2 | 2010 | 2018 | ||||||||||
|
0.807 | 0.160 | 2 | 21065449 | intergenic variant | A/G | snv | 0.69 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | ||||||||
|
9 | 15305380 | intron variant | G/C | snv | 0.72 |
|
0.800 | 1.000 | 2 | 2010 | 2017 | ||||||||||
|
0.724 | 0.360 | 1 | 109279544 | downstream gene variant | G/A;C | snv |
|
0.800 | 1.000 | 2 | 2012 | 2019 | |||||||||
|
20 | 41043978 | intron variant | T/A | snv | 0.58 |
|
0.800 | 1.000 | 2 | 2010 | 2018 | ||||||||||
|
0.882 | 0.160 | 9 | 133279427 | upstream gene variant | T/A;C | snv |
|
0.800 | 1.000 | 2 | 2010 | 2019 | |||||||||
|
0.851 | 0.360 | 11 | 116791863 | 5 prime UTR variant | C/T | snv | 0.88 | 0.89 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | |||||||
|
0.689 | 0.480 | 11 | 116792991 | upstream gene variant | G/A | snv | 0.90 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | ||||||||
|
0.827 | 0.160 | 5 | 156963286 | upstream gene variant | T/C | snv | 0.56 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | ||||||||
|
0.708 | 0.440 | 2 | 21009323 | synonymous variant | G/A | snv | 0.39 | 0.38 |
|
0.800 | 1.000 | 2 | 2009 | 2019 | |||||||
|
17 | 47347749 | intron variant | G/A;T | snv | 0.47 |
|
0.800 | 1.000 | 2 | 2010 | 2018 | ||||||||||
|
18 | 49634583 | intergenic variant | G/A;T | snv |
|
0.800 | 1.000 | 2 | 2010 | 2018 | |||||||||||
|
0.641 | 0.640 | 19 | 44908822 | missense variant | C/T | snv | 6.2E-02 | 7.9E-02 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | |||||||
|
16 | 56972678 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 2 | 2012 | 2019 | |||||||||||
|
1 | 92543881 | intron variant | C/A;G | snv |
|
0.800 | 1.000 | 2 | 2010 | 2018 | |||||||||||
|
1.000 | 0.080 | 2 | 135080336 | intron variant | C/A | snv | 0.61 |
|
0.800 | 1.000 | 2 | 2010 | 2013 | ||||||||
|
0.882 | 0.120 | 19 | 44906745 | non coding transcript exon variant | G/A | snv | 8.4E-02 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | ||||||||
|
11 | 122651667 | upstream gene variant | T/C | snv | 0.39 |
|
0.800 | 1.000 | 2 | 2010 | 2013 | ||||||||||
|
6 | 115991730 | intron variant | A/T | snv | 0.35 |
|
0.800 | 1.000 | 2 | 2010 | 2013 | ||||||||||
|
1.000 | 0.040 | 8 | 9325848 | non coding transcript exon variant | A/G | snv | 0.87 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | ||||||||
|
5 | 75341886 | intron variant | A/T | snv | 0.38 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||||
|
5 | 75340659 | intron variant | C/A | snv | 0.35 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
8 | 54509054 | upstream gene variant | G/A | snv | 0.19 |
|
0.800 | 1.000 | 1 | 2013 | 2018 | ||||||||||
|
1.000 | 0.080 | 19 | 44825957 | downstream gene variant | T/G | snv | 0.28 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||
|
2 | 21009932 | synonymous variant | G/A | snv | 0.39 | 0.38 |
|
0.800 | 1.000 | 1 | 2012 | 2019 |