| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 76753355 | intron variant | T/- | del | 0.66 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1 | 7942040 | intron variant | GGA/-;GGAGGA | delins | 6.0E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
6 | 72484255 | intergenic variant | TTAC/- | delins | 1.9E-04 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.925 | 0.080 | 2 | 164656581 | intron variant | T/C | snv | 0.48 |
|
0.800 | 1.000 | 5 | 2010 | 2019 | ||||||||
|
1.000 | 0.040 | 6 | 6742916 | upstream gene variant | T/A;C;G | snv |
|
0.800 | 1.000 | 4 | 2010 | 2019 | |||||||||
|
1.000 | 0.120 | 5 | 119393591 | 3 prime UTR variant | C/T | snv | 0.30 |
|
0.700 | 1.000 | 3 | 2015 | 2019 | ||||||||
|
0.882 | 0.120 | 4 | 55432133 | 3 prime UTR variant | G/A | snv | 0.28 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||
|
1 | 170403362 | intergenic variant | A/C | snv | 0.71 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||||
|
0.882 | 0.160 | 4 | 971991 | intron variant | G/A | snv | 0.43 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||
|
14 | 58349121 | intron variant | T/C | snv | 0.68 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||||
|
10 | 4921135 | intergenic variant | C/T | snv | 0.11 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||||
|
6 | 6738519 | intron variant | T/C | snv | 0.65 |
|
0.800 | 1.000 | 3 | 2013 | 2019 | ||||||||||
|
2 | 59724330 | intron variant | C/T | snv | 0.41 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||||
|
20 | 57560143 | upstream gene variant | C/T | snv | 0.41 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||||
|
6 | 43796814 | intergenic variant | C/T | snv | 0.40 |
|
0.700 | 1.000 | 3 | 2013 | 2019 | ||||||||||
|
15 | 66740813 | non coding transcript exon variant | T/C | snv | 0.78 |
|
0.700 | 1.000 | 3 | 2015 | 2019 | ||||||||||
|
12 | 53948900 | downstream gene variant | A/C;T | snv |
|
0.800 | 1.000 | 3 | 2010 | 2018 | |||||||||||
|
2 | 187250671 | intron variant | A/G | snv | 0.51 |
|
0.700 | 1.000 | 3 | 2015 | 2019 | ||||||||||
|
2 | 48735152 | intron variant | G/T | snv | 0.21 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||||
|
4 | 88808923 | intron variant | C/T | snv | 0.50 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||||
|
22 | 29053489 | intron variant | A/G | snv | 0.36 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||||
|
9 | 93996060 | intergenic variant | A/G | snv | 0.31 |
|
0.700 | 1.000 | 3 | 2015 | 2019 | ||||||||||
|
1.000 | 0.080 | 16 | 81501185 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 3 | 2018 | 2019 | |||||||||
|
2 | 118686653 | regulatory region variant | G/A | snv | 0.57 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||||
|
1.000 | 0.080 | 19 | 33402102 | intron variant | A/G | snv | 0.45 |
|
0.700 | 1.000 | 3 | 2015 | 2019 |