| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 113108257 | intron variant | A/C | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 159712765 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
2 | 61476184 | intron variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
2 | 43237679 | intron variant | G/A | snv | 4.7E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 218156235 | regulatory region variant | C/T | snv | 6.9E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 159848974 | intron variant | A/G | snv | 0.87 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 168850753 | intron variant | TCTCTGGAAT/-;TCTCTGGAATTCTCTGGAAT | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
2 | 218297998 | intron variant | -/C | ins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
2 | 135938202 | intron variant | T/C | snv | 5.5E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 54760823 | intron variant | TTTTTTTTTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTT | delins | 5.5E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 24377011 | intergenic variant | TT/-;T;TTT;TTTT | delins | 0.18 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 113106194 | upstream gene variant | T/C | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 218135259 | missense variant | G/A | snv | 1.4E-03 | 1.4E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.040 | 2 | 181443625 | intergenic variant | A/G | snv | 0.57 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
2 | 54786509 | intron variant | G/A | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 101160470 | intron variant | A/G | snv | 0.68 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 8808940 | intron variant | T/C | snv | 0.29 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
2 | 218197278 | upstream gene variant | T/C | snv | 8.5E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 43582208 | intron variant | G/C | snv | 6.2E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 236867522 | intergenic variant | G/C | snv | 0.62 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
3 | 128603031 | intergenic variant | G/- | delins | 0.89 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
3 | 47220756 | intron variant | C/A | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
3 | 141208279 | intergenic variant | A/G | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
3 | 141289281 | intron variant | A/G | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |