| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 68665820 | intergenic variant | A/G | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||||
|
13 | 68701828 | intergenic variant | T/A | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||||
|
14 | 23755826 | downstream gene variant | T/C | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||||
|
19 | 36956045 | intron variant | G/A | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||||
|
18 | 31252224 | intergenic variant | T/C | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||||
|
18 | 31252875 | intergenic variant | T/C | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||||
|
0.882 | 0.080 | 15 | 58391167 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 4 | 2009 | 2018 | |||||||||
|
0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 |
|
0.800 | 1.000 | 4 | 2009 | 2018 | ||||||||
|
1 | 62652525 | intron variant | A/C;T | snv |
|
0.800 | 1.000 | 3 | 2009 | 2019 | |||||||||||
|
0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 |
|
0.800 | 1.000 | 3 | 2009 | 2013 | |||||||
|
0.752 | 0.240 | 1 | 109275908 | downstream gene variant | C/T | snv | 0.74 |
|
0.800 | 1.000 | 3 | 2009 | 2019 | ||||||||
|
1.000 | 0.040 | 7 | 21567734 | intron variant | T/C | snv | 0.26 |
|
0.800 | 1.000 | 2 | 2009 | 2018 | ||||||||
|
0.882 | 0.200 | 11 | 61829740 | intron variant | C/T | snv | 0.15 |
|
0.800 | 1.000 | 2 | 2009 | 2019 | ||||||||
|
0.790 | 0.160 | 19 | 11100236 | stop gained | C/A;G;T | snv | 1.6E-05; 8.9E-02 |
|
0.800 | 1.000 | 2 | 2009 | 2019 | ||||||||
|
0.763 | 0.280 | 5 | 75355259 | non coding transcript exon variant | A/G | snv | 0.50 | 0.58 |
|
0.800 | 1.000 | 2 | 2009 | 2019 | |||||||
|
0.708 | 0.440 | 2 | 21009323 | synonymous variant | G/A | snv | 0.39 | 0.38 |
|
0.800 | 1.000 | 2 | 2009 | 2019 | |||||||
|
1 | 25442446 | intron variant | A/G | snv | 0.58 |
|
0.800 | 1.000 | 1 | 2009 | 2018 | ||||||||||
|
1.000 | 0.040 | 11 | 116733008 | TF binding site variant | C/A | snv | 9.8E-02 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.080 | 19 | 19678719 | splice region variant | A/G | snv | 0.10 | 0.12 |
|
0.800 | 1.000 | 1 | 2009 | 2019 | |||||||
|
0.925 | 0.080 | 2 | 43837951 | missense variant | G/A;T | snv | 6.7E-02 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
8 | 125492484 | intron variant | T/C | snv | 0.43 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 |
|
0.800 | 1.000 | 4 | 2010 | 2019 | |||||||
|
0.807 | 0.160 | 8 | 125478730 | intron variant | A/T | snv | 0.42 |
|
0.800 | 1.000 | 4 | 2010 | 2019 | ||||||||
|
0.732 | 0.280 | 16 | 56959412 | upstream gene variant | C/A | snv | 0.31 |
|
0.800 | 1.000 | 4 | 2010 | 2019 | ||||||||
|
0.790 | 0.120 | 19 | 11091630 | intron variant | G/T | snv | 0.12 |
|
0.800 | 1.000 | 4 | 2010 | 2019 |