| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 132771851 | non coding transcript exon variant | T/G | snv | 0.26 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
16 | 15788110 | intron variant | C/T | snv | 0.24 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.763 | 0.280 | 12 | 112207597 | intron variant | G/A | snv | 3.8E-03 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.120 | 6 | 32396178 | synonymous variant | T/C | snv | 0.41 | 0.39 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1 | 219519878 | intergenic variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
1 | 219577375 | regulatory region variant | G/T | snv | 0.23 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
1.000 | 0.080 | 3 | 52472410 | intron variant | C/T | snv | 0.96 | 0.96 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.882 | 0.120 | 3 | 64719689 | intron variant | C/A;G;T | snv |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
6 | 7217284 | non coding transcript exon variant | C/T | snv | 0.10 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
6 | 127188012 | intron variant | G/A | snv | 0.56 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
4 | 26061368 | regulatory region variant | A/G | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
4 | 121705035 | intergenic variant | T/C | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
3 | 157079859 | upstream gene variant | C/T | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
11 | 119088159 | non coding transcript exon variant | G/T | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
5 | 142477850 | intron variant | C/T | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
12 | 54065146 | intron variant | A/G | snv | 0.66 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
5 | 173854774 | intergenic variant | C/T | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
20 | 46897482 | intron variant | C/T | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
14 | 91998083 | intron variant | G/A | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
8 | 71495139 | intron variant | G/C | snv | 6.2E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
9 | 109187808 | intron variant | G/T | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
9 | 106300721 | intron variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
14 | 25458973 | intergenic variant | C/A | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.080 | 15 | 67183150 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
2 | 42961980 | intergenic variant | G/A | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |