| 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 | 6 | 2008 | 2019 | ||||||||
|
1 | 62560271 | intron variant | G/T | snv | 0.57 |
|
0.800 | 1.000 | 5 | 2010 | 2019 | ||||||||||
|
1 | 62652525 | intron variant | A/C;T | snv |
|
0.800 | 1.000 | 3 | 2009 | 2019 | |||||||||||
|
1.000 | 0.080 | 1 | 62726106 | regulatory region variant | C/T | snv | 0.16 |
|
0.800 | 1.000 | 3 | 2008 | 2019 | ||||||||
|
1.000 | 0.120 | 1 | 26811902 | upstream gene variant | C/T | snv | 5.7E-02 |
|
0.800 | 1.000 | 3 | 2013 | 2018 | ||||||||
|
0.851 | 0.120 | 1 | 62583922 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 3 | 2008 | 2019 | |||||||||
|
0.882 | 0.040 | 1 | 230159169 | intron variant | C/T | snv | 0.44 |
|
0.800 | 1.000 | 3 | 2008 | 2018 | ||||||||
|
1 | 62458777 | non coding transcript exon variant | C/T | snv | 0.39 |
|
0.700 | 1.000 | 3 | 2015 | 2019 | ||||||||||
|
1 | 230169168 | intron variant | A/G | snv | 0.50 |
|
0.700 | 1.000 | 2 | 2015 | 2018 | ||||||||||
|
1 | 62612551 | intron variant | A/T | snv | 0.32 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
1 | 62583880 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||||
|
1 | 62465961 | intron variant | C/A | snv | 0.57 |
|
0.800 | 1.000 | 2 | 2009 | 2019 | ||||||||||
|
1.000 | 0.120 | 1 | 62531167 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 2 | 2010 | 2019 | |||||||||
|
1.000 | 0.040 | 1 | 62584148 | 3 prime UTR variant | G/A | snv | 0.36 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
1 | 62584927 | intron variant | T/G | snv | 0.33 | 0.34 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||
|
1 | 62658794 | intron variant | T/G | snv | 0.34 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
1 | 62625187 | synonymous variant | C/T | snv | 0.40 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
1 | 26539480 | intron variant | T/C | snv | 5.3E-02 |
|
0.700 | 1.000 | 1 | 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 | 76996050 | intron variant | A/G | snv | 0.25 |
|
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 | 65705318 | intron variant | C/A | snv | 0.75 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 154584187 | 3 prime UTR variant | G/A | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 23421504 | intron variant | AA/-;A;AAA | delins | 0.65 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |