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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv |
|
0.020 | 1.000 | 2 | 2009 | 2020 | |||||||||
|
0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.851 | 0.080 | 4 | 174540379 | non coding transcript exon variant | T/C | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.925 | 0.080 | 21 | 45176099 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.100 | 0.876 | 89 | 2003 | 2019 | ||||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.100 | 0.875 | 88 | 2003 | 2019 | |||||||||
|
0.581 | 0.520 | 7 | 55181378 | missense variant | C/T | snv | 2.8E-05 | 5.6E-05 |
|
0.090 | 1.000 | 9 | 2013 | 2019 | |||||||
|
0.653 | 0.320 | 7 | 140753336 | missense variant | AC/CT;TT | mnv |
|
0.080 | 0.750 | 8 | 2003 | 2019 | |||||||||
|
0.677 | 0.360 | 12 | 25209618 | 3 prime UTR variant | A/C | snv | 0.46 |
|
0.040 | 1.000 | 4 | 2014 | 2019 | ||||||||
|
0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.030 | 0.667 | 3 | 2013 | 2019 | ||||||||
|
0.742 | 0.200 | 9 | 97793827 | intron variant | A/G;T | snv |
|
0.030 | 1.000 | 3 | 2014 | 2019 | |||||||||
|
0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 |
|
0.020 | 0.500 | 2 | 2016 | 2019 | ||||||||
|
0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 |
|
0.020 | 1.000 | 2 | 2015 | 2019 | ||||||||
|
0.658 | 0.520 | 7 | 55161562 | missense variant | G/A;C;T | snv | 0.29 |
|
0.020 | 1.000 | 2 | 2007 | 2019 | ||||||||
|
0.882 | 0.040 | 9 | 14190288 | intron variant | A/T | snv | 0.81 |
|
0.020 | 1.000 | 2 | 2015 | 2019 | ||||||||
|
0.742 | 0.200 | 14 | 36180040 | upstream gene variant | C/T | snv | 0.45 |
|
0.020 | 1.000 | 2 | 2015 | 2019 | ||||||||
|
0.851 | 0.080 | 2 | 29220747 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.807 | 0.120 | 7 | 6387261 | missense variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
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 | |||||||||
|
1.000 | 0.080 | 11 | 284257 | synonymous variant | G/A;C | snv | 0.16; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.080 | 17 | 7675207 | frameshift variant | GCA/CC | delins |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.851 | 0.120 | 12 | 25209843 | missense variant | A/G;T | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.776 | 0.120 | 14 | 36269155 | regulatory region variant | C/T | snv | 2.3E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.763 | 0.400 | 7 | 140753345 | missense variant | A/C;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 |