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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 2 | 8302118 | non coding transcript exon variant | G/A | snv | 0.23 |
|
0.800 | 1.000 | 1 | 2013 | 2018 | ||||||||
|
1.000 | 0.080 | 2 | 102263004 | regulatory region variant | C/A | snv | 0.15 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
2 | 198049348 | intron variant | G/T | snv | 0.43 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
2 | 198085516 | missense variant | G/A | snv | 0.44 | 0.41 |
|
0.800 | 1.000 | 1 | 2013 | 2017 | |||||||||
|
11 | 128316987 | regulatory region variant | T/G | snv | 0.36 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 0.080 | 9 | 6233082 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 1 | 2013 | 2018 | |||||||||
|
0.882 | 0.120 | 5 | 111131801 | downstream gene variant | C/T | snv | 0.61 |
|
0.800 | 1.000 | 1 | 2013 | 2018 | ||||||||
|
1.000 | 0.040 | 15 | 67157967 | intron variant | A/G | snv | 0.17 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.120 | 15 | 67175947 | intron variant | A/G | snv | 0.19 |
|
0.800 | 1.000 | 1 | 2013 | 2016 | ||||||||
|
0.827 | 0.280 | 4 | 122408207 | intron variant | G/A | snv | 0.20 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
10 | 9010779 | regulatory region variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2013 | 2016 | |||||||||||
|
0.790 | 0.240 | 5 | 111066174 | upstream gene variant | T/C | snv | 0.72 |
|
0.800 | 1.000 | 1 | 2013 | 2018 | ||||||||
|
14 | 37607943 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 10521601 | intron variant | G/A | snv | 0.25 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.925 | 0.080 | 4 | 38809930 | intron variant | G/A;T | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
16 | 27399508 | upstream gene variant | A/G | snv | 0.85 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.732 | 0.280 | 11 | 76588150 | upstream gene variant | G/T | snv | 0.52 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 2 | 8309993 | intron variant | A/G | snv | 0.35 |
|
0.800 | 1.000 | 1 | 2013 | 2016 | ||||||||
|
0.925 | 0.080 | 17 | 39910767 | intron variant | C/T | snv | 0.36 |
|
0.800 | 1.000 | 1 | 2013 | 2016 | ||||||||
|
20 | 51524725 | intron variant | T/C | snv | 5.7E-02 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
6 | 33518955 | intergenic variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
8 | 80355920 | intron variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
0.882 | 0.120 | 5 | 111134439 | downstream gene variant | C/A | snv | 0.56 |
|
0.800 | 1.000 | 1 | 2013 | 2017 | ||||||||
|
0.827 | 0.320 | 6 | 32658534 | upstream gene variant | T/C | snv | 0.47 |
|
0.800 | 1.000 | 1 | 2013 | 2013 |