| 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 | 0.040 | 10 | 122582793 | missense variant | G/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 10 | 87864514 | missense variant | A/C;T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.040 | 10 | 87894052 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 2 | 47410322 | missense variant | T/C;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 10 | 87925518 | stop gained | T/A;G | snv |
|
0.700 | 0 | ||||||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.010 | < 0.001 | 1 | 2005 | 2005 | ||||||||
|
0.882 | 0.040 | 19 | 45352266 | synonymous variant | G/A | snv | 0.28 | 0.26 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.040 | 7 | 55125270 | intron variant | T/G | snv | 0.51 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.683 | 0.480 | 12 | 53961717 | upstream gene variant | C/T | snv | 0.38 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 14 | 22779374 | intron variant | C/T | snv | 0.32 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.708 | 0.440 | 8 | 31167138 | missense variant | T/C | snv | 0.24 | 0.23 |
|
0.010 | < 0.001 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.080 | 3 | 20119604 | missense variant | A/C;G | snv | 4.0E-06; 3.3E-02 |
|
0.010 | < 0.001 | 1 | 2000 | 2000 | ||||||||
|
0.882 | 0.080 | 7 | 55073624 | intron variant | T/C | snv | 0.31 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.742 | 0.240 | 17 | 7676230 | missense variant | G/A;T | snv | 1.2E-03 |
|
0.010 | < 0.001 | 1 | 2008 | 2008 | ||||||||
|
0.683 | 0.520 | 16 | 27362859 | missense variant | T/C | snv | 0.16 | 0.22 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||
|
0.677 | 0.680 | 4 | 73741338 | intron variant | C/T | snv | 0.31 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||||
|
0.763 | 0.200 | 16 | 13919522 | upstream gene variant | C/T | snv | 0.36 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.080 | 5 | 75581441 | synonymous variant | C/T | snv | 0.24 | 0.22 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.040 | 7 | 55161850 | intron variant | T/C | snv | 0.15 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.566 | 0.800 | 4 | 73740307 | upstream gene variant | A/T | snv | 0.46 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.040 | 7 | 55120299 | intron variant | G/A | snv | 0.50 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.807 | 0.120 | 5 | 75510279 | intron variant | C/A;T | snv |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 7 | 55177814 | intron variant | A/G | snv | 0.43 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.633 | 0.480 | 12 | 53966448 | intron variant | G/A | snv | 0.57 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 |
|
0.040 | 0.500 | 4 | 2003 | 2014 |