| 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 | 0.080 | 20 | 42472359 | missense variant | G/A | snv | 1.4E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 3 | 37004421 | missense variant | T/C;G | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 3 | 37004412 | missense variant | C/A;G;T | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 2 | 47480707 | stop gained | C/G;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 2 | 47480846 | missense variant | C/G;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 2 | 47480854 | missense variant | T/G | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 2 | 47403240 | missense variant | G/A;C;T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 3 | 37048525 | missense variant | C/A;G | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 2 | 47480839 | missense variant | C/G;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 7 | 116771932 | missense variant | C/T | snv | 2.8E-05 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 7 | 116759444 | missense variant | C/T | snv | 1.2E-04 | 8.4E-05 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 16 | 68822082 | missense variant | G/A | snv | 1.6E-05 | 4.2E-05 |
|
0.700 | 0 | ||||||||||
|
0.790 | 0.320 | 4 | 38783103 | upstream gene variant | T/A | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 4 | 16075214 | intron variant | A/T | snv | 0.70 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 5 | 1427996 | intron variant | A/G | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.807 | 0.120 | 5 | 59111944 | intron variant | C/A | snv | 0.17 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | 8 | 41264249 | 3 prime UTR variant | C/G | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 17 | 7676391 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.851 | 0.120 | 9 | 117702042 | upstream gene variant | T/C | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.807 | 0.240 | 8 | 127081052 | non coding transcript exon variant | C/T | snv | 0.20 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.658 | 0.440 | 16 | 28606193 | missense variant | C/T | snv | 0.22 | 0.30 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.925 | 0.080 | 19 | 17818178 | intron variant | A/G | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.790 | 0.280 | 19 | 51746419 | missense variant | A/C;G | snv | 0.32; 0.13 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.701 | 0.480 | 6 | 43785475 | 3 prime UTR variant | A/G | snv | 0.59 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.080 | 11 | 13388251 | 3 prime UTR variant | A/T | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2019 | 2019 |