| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.160 | 10 | 103898989 | missense variant | C/A;T | snv | 4.0E-06; 2.4E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.160 | 10 | 103900115 | missense variant | C/G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.790 | 0.320 | 6 | 106140931 | intron variant | A/C | snv | 0.61 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.040 | 10 | 110122249 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.851 | 0.120 | 13 | 110176912 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 13 | 110229026 | intron variant | C/T | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 13 | 110291574 | intron variant | C/T | snv | 0.84 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 2 | 113241628 | missense variant | C/G;T | snv | 2.4E-04 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | 1 | 113896329 | missense variant | A/G | snv | 0.30 | 0.42 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.827 | 0.200 | 12 | 116007542 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.280 | 12 | 117215033 | 3 prime UTR variant | G/A | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 12 | 117232109 | synonymous variant | G/A | snv | 0.22 | 0.22 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.040 | 12 | 117236324 | intron variant | C/G | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.807 | 0.200 | 9 | 117704539 | missense variant | C/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.776 | 0.360 | 1 | 11790308 | 3 prime UTR variant | T/A;G | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.790 | 0.360 | 1 | 11792243 | intron variant | C/G;T | snv | 4.0E-06; 0.26 | 0.23 |
|
0.020 | 1.000 | 2 | 2011 | 2016 | |||||||
|
0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.683 | 0.480 | 1 | 11802157 | intron variant | T/C | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 12 | 120691123 | intron variant | C/T | snv | 0.34 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 12 | 120694297 | intron variant | C/T | snv | 7.3E-05; 0.43 | 0.49 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 |
|
0.010 | 1.000 | 1 | 2005 | 2005 |