| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 126825998 | missense variant | C/T | snv | 2.0E-02 | 1.5E-02 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | |||||||||
|
19 | 54279520 | missense variant | A/G;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2018 | |||||||||||
|
0.925 | 0.080 | 21 | 42366929 | upstream gene variant | G/A | snv | 0.27 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||
|
1 | 8974539 | intron variant | A/G | snv | 0.48 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
2 | 3594771 | upstream gene variant | T/C | snv | 0.81 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
1 | 116947639 | intron variant | G/T | snv | 0.80 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
19 | 32582525 | intron variant | G/A | snv | 0.46 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
19 | 18392384 | intron variant | C/T | snv | 0.22 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
12 | 54336088 | intron variant | T/C | snv | 0.42 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
12 | 69338325 | TF binding site variant | T/C | snv | 0.36 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
4 | 76079288 | intron variant | A/G | snv | 0.67 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
9 | 133211660 | upstream gene variant | T/C | snv | 0.63 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
1 | 169696410 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2018 | |||||||||||
|
0.752 | 0.400 | 2 | 135851076 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 9 | 133273983 | intron variant | A/G | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||
|
11 | 60921973 | synonymous variant | T/C | snv | 0.70 | 0.64 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | |||||||||
|
3 | 186663473 | intron variant | T/C | snv | 0.29 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
9 | 134860694 | intergenic variant | A/T | snv | 0.16 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
0.708 | 0.120 | 17 | 44352876 | 3 prime UTR variant | C/T | snv | 0.41 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||
|
20 | 41361737 | missense variant | G/C;T | snv | 3.3E-02; 4.0E-06 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
3 | 165764276 | intron variant | G/A | snv | 0.19 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
0.827 | 0.160 | 6 | 160073377 | missense variant | A/C;G;T | snv | 0.90 | 0.91 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | |||||||
|
12 | 7094298 | intron variant | G/A | snv | 0.36 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
21 | 32496173 | intron variant | T/G | snv | 0.51 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
1 | 22735058 | intron variant | G/A | snv | 8.2E-02 |
|
0.700 | 1.000 | 2 | 2018 | 2018 |