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 | 235943941 | upstream gene variant | A/C | snv | 0.93 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
19 | 6675978 | downstream gene variant | A/G | snv | 0.84 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
5 | 173780350 | non coding transcript exon variant | A/G | snv | 0.83 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
15 | 64337674 | intron variant | A/G | snv | 0.79 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
16 | 85949450 | downstream gene variant | T/C | snv | 0.78 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
9 | 21986848 | intron variant | T/A | snv | 0.74 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 32459228 | downstream gene variant | -/AC | delins | 0.72 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
17 | 37491071 | intron variant | A/C | snv | 0.72 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
7 | 138196944 | regulatory region variant | T/C | snv | 0.72 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
12 | 89504600 | intron variant | -/T | delins | 0.70 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
3 | 24306309 | intron variant | T/C | snv | 0.70 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 136131638 | intergenic variant | A/G | snv | 0.69 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
10 | 30207976 | regulatory region variant | A/G | snv | 0.67 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.672 | 0.600 | 12 | 111569952 | intron variant | C/T | snv | 0.67 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.724 | 0.240 | 1 | 159205564 | missense variant | G/A | snv | 0.51 | 0.66 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
6 | 10526140 | intron variant | T/A | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
17 | 27521170 | intron variant | C/T | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
19 | 1026478 | upstream gene variant | G/T | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.882 | 19 | 18287818 | upstream gene variant | G/C | snv | 0.64 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
13 | 49549135 | intron variant | AAA/-;A;AA;AAAA;AAAAAA | delins | 0.64 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
3 | 128619757 | downstream gene variant | A/C | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
13 | 28063701 | intron variant | A/G | snv | 0.60 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 31493595 | intron variant | A/T | snv | 0.59 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.080 | 7 | 50273756 | downstream gene variant | G/A | snv | 0.59 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
12 | 41306962 | intron variant | C/T | snv | 0.57 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |