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 | 0.080 | 11 | 8221479 | downstream gene variant | A/G | snv | 0.49 |
|
0.040 | 1.000 | 4 | 2016 | 2020 | ||||||||
|
0.882 | 0.080 | 11 | 8217092 | intergenic variant | G/A | snv | 0.42 |
|
0.040 | 1.000 | 4 | 2016 | 2020 | ||||||||
|
0.827 | 0.200 | 8 | 24944767 | intergenic variant | A/G | snv | 0.70 |
|
0.020 | 1.000 | 2 | 2014 | 2018 | ||||||||
|
0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 1 | 161743067 | intergenic variant | C/T | snv | 0.51 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.080 | 9 | 134449754 | TF binding site variant | T/C | snv | 0.46 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 15 | 74165683 | intron variant | G/A | snv | 0.12 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.683 | 0.480 | 12 | 53961717 | upstream gene variant | C/T | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.732 | 0.400 | 3 | 122170241 | downstream gene variant | A/G | snv | 0.60 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.732 | 0.240 | 12 | 53961667 | upstream gene variant | C/T | snv | 0.38 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.120 | 16 | 16079375 | missense variant | G/T | snv | 3.8E-02 | 3.6E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.827 | 0.160 | 15 | 58750164 | intron variant | C/A | snv | 0.57 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.763 | 0.240 | 15 | 58749813 | upstream gene variant | T/C;G | snv | 0.45 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.827 | 0.080 | 4 | 61996533 | intron variant | G/A | snv | 0.26 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.080 | 4 | 99412110 | downstream gene variant | G/A | snv | 0.78 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 8 | 26864314 | missense variant | T/C | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.882 | 0.080 | 2 | 96115494 | missense variant | T/C | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.763 | 0.240 | 2 | 29220831 | missense variant | A/C;G;T | snv |
|
0.100 | 1.000 | 15 | 2008 | 2019 | |||||||||
|
0.776 | 0.200 | 2 | 29220829 | missense variant | G/C;T | snv |
|
0.100 | 1.000 | 15 | 2008 | 2019 | |||||||||
|
0.827 | 0.120 | 2 | 29209798 | missense variant | C/A;T | snv |
|
0.100 | 0.900 | 10 | 2011 | 2019 | |||||||||
|
0.851 | 0.080 | 2 | 29209789 | missense variant | T/G | snv |
|
0.020 | 1.000 | 2 | 2017 | 2018 | |||||||||
|
0.776 | 0.120 | 2 | 29220830 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.827 | 0.120 | 14 | 20693686 | missense variant | A/T | snv | 1.2E-03 | 9.4E-04 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.827 | 0.120 | 14 | 20693753 | missense variant | C/G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 |
|
0.010 | 1.000 | 1 | 2019 | 2019 |