| 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 | 100342807 | upstream gene variant | A/G;T | snv |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||||||
|
17 | 61372744 | intron variant | T/C | snv | 0.69 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
6 | 32612725 | intergenic variant | G/A | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||||
|
3 | 186715257 | intron variant | A/G | snv | 0.36 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
5 | 39421634 | intron variant | G/A | snv | 0.37 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
21 | 36461960 | intron variant | T/C | snv | 0.72 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
3 | 185604855 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||||||
|
5 | 39426205 | intron variant | T/C | snv | 0.21 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
7 | 1246556 | regulatory region variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||||||
|
20 | 58897119 | intron variant | C/T | snv | 0.70 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
3 | 141997230 | intron variant | T/C | snv | 0.19 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
20 | 63704982 | non coding transcript exon variant | T/C;G | snv |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||||||
|
8 | 125465736 | upstream gene variant | G/A;C;T | snv |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||||||
|
10 | 93079885 | downstream gene variant | G/A | snv | 0.42 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
4 | 102817815 | intron variant | T/C | snv | 0.38 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
20 | 57568113 | 3 prime UTR variant | T/A;G | snv |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||||||
|
15 | 45420141 | intron variant | T/C | snv | 0.56 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
2 | 216818056 | intron variant | C/A | snv | 0.56 |
|
0.700 | 1.000 | 2 | 2016 | 2016 | ||||||||||
|
1 | 243338461 | intron variant | C/A;G;T | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||||
|
19 | 48711213 | downstream gene variant | T/C | snv | 0.39 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
13 | 71798392 | intron variant | T/A | snv | 0.51 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
6 | 160254732 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 2 | 2016 | 2016 | |||||||||||
|
6 | 160248049 | intron variant | A/G | snv | 0.89 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
1 | 171486183 | intron variant | C/T | snv | 7.3E-02 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
2 | 169139071 | intron variant | C/T | snv | 4.1E-02 |
|
0.700 | 1.000 | 2 | 2019 | 2019 |