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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.240 | 16 | 56961324 | upstream gene variant | C/A;G | snv | 0.51; 5.7E-06 |
|
0.800 | 1.000 | 5 | 2007 | 2019 | ||||||||
|
0.732 | 0.280 | 16 | 56959412 | upstream gene variant | C/A | snv | 0.31 |
|
0.800 | 1.000 | 9 | 2008 | 2019 | ||||||||
|
0.882 | 0.120 | 16 | 56951227 | regulatory region variant | A/G | snv | 0.55 |
|
0.800 | 1.000 | 6 | 2008 | 2019 | ||||||||
|
0.925 | 0.080 | 1 | 230159944 | intron variant | G/A | snv | 0.45 |
|
0.800 | 1.000 | 5 | 2008 | 2019 | ||||||||
|
0.925 | 0.080 | 8 | 19990179 | intergenic variant | C/A | snv | 8.4E-02 |
|
0.800 | 1.000 | 4 | 2008 | 2019 | ||||||||
|
1.000 | 0.040 | 18 | 49655298 | downstream gene variant | A/G;T | snv |
|
0.800 | 1.000 | 4 | 2008 | 2019 | |||||||||
|
0.827 | 0.040 | 16 | 56981179 | missense variant | G/C | snv | 5.2E-02 | 3.7E-02 |
|
0.800 | 1.000 | 4 | 2008 | 2019 | |||||||
|
0.882 | 0.120 | 16 | 56963321 | intron variant | G/A | snv | 0.26 |
|
0.800 | 1.000 | 3 | 2008 | 2019 | ||||||||
|
0.925 | 0.040 | 16 | 67991092 | intron variant | G/A | snv | 0.17 | 0.17 |
|
0.800 | 1.000 | 3 | 2008 | 2019 | |||||||
|
0.925 | 0.120 | 9 | 104885374 | intron variant | G/A;T | snv |
|
0.800 | 1.000 | 3 | 2008 | 2019 | |||||||||
|
1.000 | 0.040 | 15 | 58382496 | intron variant | G/C | snv | 0.24 |
|
0.800 | 1.000 | 3 | 2008 | 2019 | ||||||||
|
0.649 | 0.400 | 16 | 56982180 | missense variant | G/A;C | snv | 0.62 |
|
0.700 | 1.000 | 3 | 2008 | 2012 | ||||||||
|
1.000 | 0.040 | 16 | 56962299 | splice region variant | G/A;C | snv |
|
0.800 | 1.000 | 3 | 2008 | 2016 | |||||||||
|
1.000 | 0.080 | 8 | 19975135 | regulatory region variant | G/T | snv | 8.8E-02 |
|
0.800 | 1.000 | 2 | 2008 | 2019 | ||||||||
|
0.790 | 0.200 | 15 | 58431476 | intron variant | C/G;T | snv | 0.30 |
|
0.800 | 1.000 | 2 | 2008 | 2019 | ||||||||
|
0.724 | 0.280 | 16 | 56983407 | missense variant | G/A | snv | 3.7E-02 | 2.8E-02 |
|
0.700 | 1.000 | 2 | 2008 | 2012 | |||||||
|
0.882 | 0.040 | 1 | 230159169 | intron variant | C/T | snv | 0.44 |
|
0.800 | 1.000 | 2 | 2008 | 2018 | ||||||||
|
1.000 | 0.040 | 12 | 109457363 | non coding transcript exon variant | C/G | snv | 0.58 |
|
0.800 | 1.000 | 2 | 2008 | 2019 | ||||||||
|
0.732 | 0.440 | 8 | 19962213 | stop gained | C/G | snv | 9.2E-02 | 9.0E-02 |
|
0.800 | 1.000 | 2 | 2008 | 2019 | |||||||
|
0.790 | 0.160 | 9 | 104858554 | missense variant | G/A | snv | 1.3E-02 | 4.4E-03 |
|
0.800 | 1.000 | 2 | 2008 | 2019 | |||||||
|
15 | 58450532 | intron variant | T/G | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||||
|
0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.790 | 0.280 | 18 | 60217517 | intergenic variant | G/A | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.040 | 9 | 104884939 | intron variant | C/T | snv | 0.46 |
|
0.800 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
16 | 56970977 | intron variant | G/A | snv | 0.34 |
|
0.800 | 1.000 | 1 | 2008 | 2019 |