| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.683 | 0.240 | 17 | 7673781 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.611 | 0.520 | 17 | 7673803 | missense variant | G/A;C;T | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.689 | 0.200 | 15 | 90088606 | missense variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2007 | 2007 | ||||||||
|
0.790 | 0.200 | 14 | 80211923 | 5 prime UTR variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.851 | 0.040 | 8 | 38429805 | missense variant | T/C | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.040 | 1 | 169376605 | missense variant | T/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.040 | 6 | 31165259 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.827 | 0.040 | 1 | 67687668 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.040 | 7 | 27174132 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.658 | 0.480 | 9 | 21994285 | missense variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.851 | 0.040 | X | 43632629 | intergenic variant | G/A | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.807 | 0.080 | 9 | 21974503 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.807 | 0.080 | 7 | 55154129 | missense variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.851 | 0.040 | 5 | 81411157 | non coding transcript exon variant | T/A | snv | 9.4E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.653 | 0.400 | 3 | 36993455 | 5 prime UTR variant | G/A | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.627 | 0.560 | 5 | 132657117 | non coding transcript exon variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.581 | 0.680 | 16 | 27363079 | missense variant | A/G | snv | 0.25 | 0.36 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.742 | 0.160 | 15 | 40695330 | 5 prime UTR variant | G/C | snv | 0.12 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.683 | 0.520 | 16 | 27362859 | missense variant | T/C | snv | 0.16 | 0.22 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.851 | 0.040 | 14 | 35404564 | synonymous variant | G/A | snv | 0.28 | 0.25 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.649 | 0.640 | 19 | 41353016 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.851 | 0.040 | 4 | 23795829 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 |