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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.763 | 0.200 | 2 | 101994530 | intron variant | T/C | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.160 | 2 | 102005914 | intron variant | A/G | snv | 0.63 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.200 | 2 | 102007256 | intron variant | C/T | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.807 | 0.160 | 2 | 102015190 | intron variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.763 | 0.280 | 11 | 102530930 | upstream gene variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.080 | 14 | 103699410 | missense variant | C/T | snv | 1.5E-03 | 5.9E-03 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 |
|
0.030 | 1.000 | 3 | 2013 | 2018 | |||||||
|
0.827 | 0.200 | 12 | 10379727 | missense variant | T/C | snv | 0.81 | 0.74 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.851 | 0.120 | X | 108090354 | intron variant | G/C;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.851 | 0.120 | X | 108094263 | intron variant | G/A | snv | 0.51 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.627 | 0.400 | 11 | 108304735 | missense variant | G/A | snv | 0.11 | 0.11 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.677 | 0.280 | 19 | 1090804 | intron variant | A/G | snv | 0.78 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.574 | 0.680 | 11 | 111511840 | intron variant | T/C | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.620 | 0.720 | 2 | 112785383 | upstream gene variant | G/A;C | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.160 | 2 | 112834078 | intron variant | T/A;G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.605 | 0.760 | 2 | 112836810 | 5 prime UTR variant | G/A | snv | 0.56 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 |
|
0.020 | 1.000 | 2 | 2015 | 2019 | ||||||||
|
1.000 | 0.080 | 5 | 112838434 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2005 | 2005 | ||||||||
|
1.000 | 0.080 | 5 | 112838623 | missense variant | G/A | snv |
|
0.010 | < 0.001 | 1 | 2005 | 2005 | |||||||||
|
0.807 | 0.120 | 2 | 113236840 | non coding transcript exon variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.807 | 0.120 | 2 | 113253214 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.080 | 8 | 116846150 | 3 prime UTR variant | G/A | snv | 0.70 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.080 | 8 | 116861572 | intron variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.882 | 0.080 | 8 | 116867092 | intron variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.658 | 0.640 | 9 | 117707776 | intron variant | A/G | snv | 0.62 |
|
0.010 | 1.000 | 1 | 2019 | 2019 |