| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 1 | 230159944 | intron variant | G/A | snv | 0.45 |
|
0.800 | 1.000 | 8 | 2008 | 2019 | ||||||||
|
1 | 39562508 | non coding transcript exon variant | A/C;G | snv |
|
0.800 | 1.000 | 5 | 2010 | 2018 | |||||||||||
|
1.000 | 0.120 | 1 | 26811902 | upstream gene variant | C/T | snv | 5.7E-02 |
|
0.800 | 1.000 | 4 | 2013 | 2018 | ||||||||
|
0.882 | 0.040 | 1 | 230159169 | intron variant | C/T | snv | 0.44 |
|
0.800 | 1.000 | 4 | 2008 | 2018 | ||||||||
|
1 | 220796686 | missense variant | A/G | snv | 0.75 | 0.78 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | |||||||||
|
1 | 178546177 | intron variant | G/A | snv | 0.40 |
|
0.800 | 1.000 | 3 | 2013 | 2018 | ||||||||||
|
0.752 | 0.240 | 1 | 109275908 | downstream gene variant | C/T | snv | 0.74 |
|
0.800 | 1.000 | 3 | 2012 | 2019 | ||||||||
|
1 | 156730859 | intron variant | T/G | snv | 0.24 |
|
0.800 | 1.000 | 2 | 2013 | 2017 | ||||||||||
|
1 | 178560763 | upstream gene variant | G/A | snv | 0.42 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
1 | 182199750 | intron variant | A/G | snv | 0.34 |
|
0.800 | 1.000 | 2 | 2010 | 2013 | ||||||||||
|
1 | 230171476 | intron variant | T/G | snv | 0.72 |
|
0.700 | 1.000 | 2 | 2015 | 2018 | ||||||||||
|
0.851 | 0.120 | 1 | 109275684 | 3 prime UTR variant | G/T | snv | 0.74 |
|
0.800 | 1.000 | 2 | 2012 | 2018 | ||||||||
|
1 | 109264661 | intron variant | A/C;T | snv | 4.0E-06; 0.10 |
|
0.700 | 1.000 | 2 | 2015 | 2018 | ||||||||||
|
1 | 39085816 | intron variant | T/C | snv | 0.18 |
|
0.700 | 1.000 | 2 | 2015 | 2018 | ||||||||||
|
0.851 | 0.080 | 1 | 109274570 | 3 prime UTR variant | A/G | snv | 0.23 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | ||||||||
|
1 | 26958422 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2018 | |||||||||||
|
1 | 172377408 | intron variant | G/A | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1 | 230160042 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1 | 230169242 | intron variant | A/C;G | snv |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
1 | 149937602 | upstream gene variant | G/A | snv | 4.7E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 230169168 | intron variant | A/G | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 93396463 | intergenic variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1 | 205714939 | 3 prime UTR variant | T/C | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 184080844 | non coding transcript exon variant | T/C | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 26695422 | intron variant | G/C | snv | 1.7E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |