| 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 | 0.040 | 22 | 38081923 | synonymous variant | G/A | snv | 0.47 | 0.46 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 22 | 41629346 | intron variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.776 | 0.160 | 21 | 33027257 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.701 | 0.360 | 20 | 63678486 | intron variant | A/C;G | snv |
|
0.900 | 0.952 | 21 | 2009 | 2020 | |||||||||
|
0.763 | 0.080 | 20 | 63680946 | intron variant | T/C | snv | 0.81 |
|
0.820 | 1.000 | 5 | 2009 | 2018 | ||||||||
|
1.000 | 0.040 | 20 | 63743036 | 3 prime UTR variant | C/A;T | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 20 | 63694806 | missense variant | G/A | snv | 3.2E-03 | 1.1E-03 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.040 | 20 | 63691653 | intron variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.040 | 20 | 63711343 | intron variant | T/C | snv | 0.10 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.807 | 0.200 | 20 | 63686867 | non coding transcript exon variant | T/C | snv | 8.8E-02 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 20 | 63746996 | synonymous variant | C/T | snv | 0.34 | 0.30 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.882 | 0.040 | 20 | 63689615 | synonymous variant | T/C | snv | 0.74 | 0.81 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
0.100 | 0.933 | 15 | 2010 | 2017 | |||||||
|
0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 |
|
0.100 | 0.929 | 14 | 2010 | 2017 | |||||||
|
0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 |
|
0.100 | 1.000 | 11 | 2005 | 2017 | ||||||||
|
0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 |
|
0.090 | 0.889 | 9 | 2012 | 2017 | ||||||||
|
0.620 | 0.400 | 19 | 45409478 | stop gained | C/A;G;T | snv | 0.29; 4.3E-06; 4.3E-06 |
|
0.070 | 0.857 | 7 | 2014 | 2017 | ||||||||
|
0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 |
|
0.040 | 0.500 | 4 | 2012 | 2017 | ||||||||
|
0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 |
|
0.020 | 0.500 | 2 | 2012 | 2017 | |||||||
|
0.882 | 0.040 | 19 | 45352266 | synonymous variant | G/A | snv | 0.28 | 0.26 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||
|
0.776 | 0.200 | 19 | 43543490 | missense variant | G/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.790 | 0.120 | 19 | 43543621 | missense variant | G/A;C | snv | 4.0E-06; 1.2E-05 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.637 | 0.560 | 19 | 10284116 | missense variant | G/A | snv | 0.11 | 9.3E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.807 | 0.160 | 19 | 43551609 | synonymous variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.653 | 0.400 | 19 | 45423658 | intron variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 |