| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.120 | 6 | 106150148 | intron variant | G/A | snv | 0.47 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.040 | 19 | 47004177 | 3 prime UTR variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.695 | 0.280 | 4 | 54733166 | missense variant | G/C;T | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.807 | 0.120 | 7 | 116783374 | missense variant | T/G | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.742 | 0.160 | 1 | 226064451 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.649 | 0.480 | 17 | 7675209 | missense variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.695 | 0.520 | 9 | 22003368 | 3 prime UTR variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.882 | 0.080 | 9 | 97700127 | non coding transcript exon variant | T/C | snv | 3.2E-02 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.851 | 0.080 | 17 | 7675207 | frameshift variant | GCA/CC | delins |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.645 | 0.280 | 17 | 39723335 | missense variant | A/G;T | snv | 0.20 |
|
0.010 | < 0.001 | 1 | 2008 | 2008 | ||||||||
|
0.807 | 0.200 | 3 | 133601021 | 3 prime UTR variant | G/A | snv | 5.8E-03 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.763 | 0.320 | 12 | 68251271 | intron variant | C/G | snv | 0.18 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 2 | 186678500 | 3 prime UTR variant | G/C | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.763 | 0.400 | 7 | 140753345 | missense variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.851 | 0.120 | 4 | 54728055 | missense variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.827 | 0.240 | 12 | 112450362 | missense variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 |