| 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 | 0.120 | 19 | 1221320 | missense variant | C/A;G;T | snv | 2.9E-05; 1.2E-04 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.120 | 16 | 68833362 | missense variant | A/G | snv | 4.4E-05 | 1.1E-04 |
|
0.700 | 0 | ||||||||||
|
0.776 | 0.280 | 17 | 43093570 | frameshift variant | TTTT/-;TT;TTT;TTTTT | delins | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.200 | 17 | 43091614 | frameshift variant | AA/- | del |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.160 | 22 | 28710005 | splice donor variant | C/A;G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 1 | 10378834 | 3 prime UTR variant | G/A | snv | 0.33 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.716 | 0.360 | 8 | 127343372 | intron variant | A/G | snv | 0.43 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 19 | 8977341 | missense variant | T/A;C;G | snv | 2.0E-05; 4.0E-06; 0.74 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||||
|
0.672 | 0.480 | 14 | 20454990 | non coding transcript exon variant | T/C;G | snv |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||||
|
0.790 | 0.200 | 17 | 39723335 | missense variant | A/G;T | snv |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||||
|
0.776 | 0.320 | 15 | 90761015 | stop gained | C/A;T | snv | 4.1E-06; 1.4E-04 | 1.7E-04 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | |||||||
|
0.752 | 0.480 | 6 | 43777358 | non coding transcript exon variant | C/A | snv | 0.31 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||||
|
0.752 | 0.240 | 6 | 40568389 | intron variant | G/A | snv | 0.51 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | ||||||||
|
0.807 | 0.360 | 6 | 43783338 | non coding transcript exon variant | A/G | snv | 0.18 |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||||
|
0.851 | 0.160 | 12 | 913403 | stop gained | A/C | snv | 3.5E-02 | 2.1E-02 |
|
0.010 | < 0.001 | 1 | 2005 | 2005 | |||||||
|
0.732 | 0.240 | 12 | 53961667 | upstream gene variant | C/T | snv | 0.38 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.040 | 0.250 | 4 | 2010 | 2015 | |||||||||
|
0.645 | 0.280 | 17 | 39723335 | missense variant | A/G;T | snv | 0.20 |
|
0.020 | 0.500 | 2 | 2016 | 2018 | ||||||||
|
0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv |
|
0.020 | 0.500 | 2 | 2010 | 2017 | |||||||||
|
0.790 | 0.240 | 3 | 87061524 | intergenic variant | T/C | snv | 0.76 |
|
0.020 | 0.500 | 2 | 2008 | 2011 | ||||||||
|
0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 |
|
0.020 | 0.500 | 2 | 2008 | 2012 | |||||||
|
0.827 | 0.160 | 17 | 43115759 | missense variant | G/A | snv |
|
0.020 | 0.500 | 2 | 2007 | 2010 | |||||||||
|
0.790 | 0.200 | 17 | 43115759 | frameshift variant | G/- | delins |
|
0.020 | 0.500 | 2 | 2007 | 2010 | |||||||||
|
0.807 | 0.160 | 17 | 43115755 | frameshift variant | ACAGG/- | delins |
|
0.020 | 0.500 | 2 | 2007 | 2010 | |||||||||
|
0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 |
|
0.050 | 0.600 | 5 | 2013 | 2017 |