| 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 | 0.040 | 1 | 91611540 | TF binding site variant | G/A | snv | 0.81 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
1 | 221030957 | regulatory region variant | A/C | snv | 0.30 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
1 | 118368672 | intergenic variant | T/G | snv | 0.21 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
1 | 150575271 | 3 prime UTR variant | G/A | snv | 0.48 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
1 | 204457167 | intron variant | A/G | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 10652408 | non coding transcript exon variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1 | 204557932 | 3 prime UTR variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
0.827 | 0.080 | 1 | 196710325 | intron variant | A/C | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1 | 221587993 | intergenic variant | A/G | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 31096384 | upstream gene variant | G/T | snv | 0.70 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 22175135 | intergenic variant | T/C | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 118739138 | regulatory region variant | A/G | snv | 4.0E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 65521481 | intron variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1 | 67802624 | intron variant | C/T | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 1774506 | intron variant | T/C | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.925 | 0.120 | 1 | 155179017 | intron variant | C/T | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1 | 21939837 | upstream gene variant | C/G | snv | 1.3E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 221461865 | intergenic variant | C/G | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 26470431 | 3 prime UTR variant | G/C | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 22331992 | intergenic variant | G/A | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 150195892 | intergenic variant | G/A | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 220880203 | missense variant | T/C | snv | 0.24 | 0.23 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1 | 147022468 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1 | 22286197 | regulatory region variant | A/G | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 82751708 | intron variant | T/C | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |