| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | ||||||||||
|
11 | 116851325 | intron variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
8 | 54509054 | upstream gene variant | G/A | snv | 0.19 |
|
0.800 | 1.000 | 1 | 2013 | 2018 | ||||||||||
|
9 | 104888562 | intron variant | C/T | snv | 0.47 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 18611437 | intron variant | T/C | snv | 0.64 | 0.55 |
|
0.800 | 1.000 | 2 | 2010 | 2018 | |||||||||
|
7 | 142672656 | downstream gene variant | T/C | snv | 3.9E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 21021128 | intron variant | G/T | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
14 | 74480389 | 3 prime UTR variant | C/A | snv | 1.1E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.827 | 0.320 | 11 | 61790331 | non coding transcript exon variant | T/C | snv | 0.47 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
9 | 76038907 | intron variant | T/C | snv | 8.3E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
9 | 122376185 | intron variant | C/T | snv | 1.8E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.776 | 0.240 | 19 | 19296909 | intron variant | T/C | snv | 0.10 |
|
0.800 | 1.000 | 3 | 2010 | 2018 | ||||||||
|
1.000 | 0.080 | 19 | 44825957 | downstream gene variant | T/G | snv | 0.28 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||
|
19 | 19394278 | intron variant | C/T | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 21009932 | synonymous variant | G/A | snv | 0.39 | 0.38 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | |||||||||
|
0.790 | 0.200 | 2 | 21002881 | stop gained | C/A;T | snv | 8.0E-06; 0.15 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.851 | 0.240 | 2 | 21002409 | missense variant | C/T | snv | 0.70 | 0.78 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | |||||||
|
0.662 | 0.320 | 6 | 160589086 | intron variant | A/G | snv | 4.3E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||
|
5 | 75348856 | intron variant | G/T | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 12297276 | downstream gene variant | C/T | snv | 1.2E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 118078265 | intergenic variant | G/A | snv | 5.2E-02 |
|
0.800 | 1.000 | 1 | 2013 | 2018 | ||||||||||
|
19 | 19612406 | intron variant | C/T | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.925 | 0.080 | 8 | 19990179 | intergenic variant | C/A | snv | 8.4E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 11 | 116793324 | upstream gene variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 |