| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.090 | 0.889 | 9 | 1999 | 2020 | |||||||||
|
0.547 | 0.720 | 11 | 46739084 | missense variant | G/A;C | snv |
|
0.090 | 1.000 | 9 | 1999 | 2018 | |||||||||
|
1.000 | 0.040 | 4 | 186286227 | non coding transcript exon variant | C/T | snv | 0.35 |
|
0.030 | 1.000 | 3 | 2009 | 2016 | ||||||||
|
0.637 | 0.560 | 1 | 169549811 | missense variant | C/T | snv | 1.8E-02 |
|
0.730 | 1.000 | 3 | 1998 | 2016 | ||||||||
|
0.649 | 0.600 | 7 | 101126430 | upstream gene variant | A/G | snv |
|
0.020 | 1.000 | 2 | 2018 | 2019 | |||||||||
|
0.882 | 0.160 | 4 | 186271327 | intron variant | T/C | snv | 0.57 |
|
0.020 | 1.000 | 2 | 2009 | 2016 | ||||||||
|
0.807 | 0.240 | 4 | 154604124 | downstream gene variant | G/A | snv | 0.26 |
|
0.020 | 1.000 | 2 | 2007 | 2010 | ||||||||
|
0.763 | 0.280 | 17 | 64350416 | missense variant | T/C | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 1 | 169546573 | missense variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.040 | 3 | 93882955 | intron variant | A/G | snv | 0.34 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.763 | 0.200 | 17 | 64356203 | missense variant | C/A;T | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 3 | 93969667 | intron variant | G/A | snv | 0.46 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 2 | 127418286 | upstream gene variant | C/T | snv | 0.33 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 4 | 75909495 | downstream gene variant | T/C | snv | 2.5E-02 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.040 | 18 | 49569117 | intron variant | T/C | snv | 0.55 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.120 | 1 | 173917078 | intron variant | C/T | snv | 9.6E-02 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.080 | 17 | 28370430 | intron variant | C/A;T | snv | 0.12 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.695 | 0.360 | 17 | 64377836 | missense variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.040 | 1 | 173917605 | upstream gene variant | CTAACCAAGGAAACAAACTTGGTTCATACCCA/TACCTGACTGAGGAGAAACTTGTCTGCAGGATTTTTTGTTTCTCGTTAACTAAATCAGAAGATAGAAATAGTTAATGTCCAAAAACTTCTAGCCCTCTACCTGTAATT | delins |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.040 | X | 139550700 | intron variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.040 | 1 | 169550655 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||||
|
1.000 | 0.040 | 3 | 93956895 | intron variant | C/G | snv | 0.97 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 18 | 49586638 | intron variant | C/T | snv | 0.52 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 1 | 11792279 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 11 | 46739317 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 |