| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.708 | 0.400 | 3 | 41224646 | missense variant | C/A;G;T | snv |
|
0.820 | 1.000 | 0 | 2016 | 2018 | |||||||||
|
0.763 | 0.240 | 3 | 41224645 | missense variant | T/C;G | snv |
|
0.810 | 1.000 | 0 | 2015 | 2016 | |||||||||
|
0.763 | 0.240 | 3 | 41224634 | missense variant | C/A;T | snv |
|
0.810 | 1.000 | 0 | 2015 | 2016 | |||||||||
|
0.645 | 0.320 | 3 | 179218304 | missense variant | A/C;G;T | snv |
|
0.800 | 1.000 | 1 | 2005 | 2016 | |||||||||
|
0.742 | 0.200 | 3 | 41224621 | missense variant | T/C;G | snv |
|
0.800 | 1.000 | 0 | 2016 | 2016 | |||||||||
|
0.732 | 0.200 | 3 | 41224607 | missense variant | A/C;G;T | snv |
|
0.800 | 1.000 | 0 | 2016 | 2016 | |||||||||
|
0.724 | 0.200 | 3 | 41224612 | missense variant | G/A;C | snv |
|
0.800 | 1.000 | 0 | 2016 | 2016 | |||||||||
|
0.683 | 0.360 | 3 | 41224610 | missense variant | C/A;G;T | snv |
|
0.800 | 1.000 | 0 | 2016 | 2016 | |||||||||
|
0.683 | 0.240 | 3 | 41224622 | missense variant | C/A;G;T | snv |
|
0.800 | 1.000 | 0 | 2016 | 2016 | |||||||||
|
0.724 | 0.280 | 3 | 41224633 | missense variant | A/C;G;T | snv |
|
0.800 | 1.000 | 0 | 2016 | 2016 | |||||||||
|
0.701 | 0.200 | 3 | 41224606 | missense variant | G/A;C;T | snv |
|
0.800 | 1.000 | 0 | 2016 | 2016 | |||||||||
|
0.925 | 0.080 | 7 | 116778953 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 1999 | 1999 | |||||||||
|
0.925 | 0.080 | 7 | 116783421 | missense variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 1999 | 1999 | |||||||||
|
0.925 | 0.080 | 7 | 116783402 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 1999 | 1999 | |||||||||
|
1.000 | 0.080 | 14 | 54411612 | missense variant | A/G | snv | 3.4E-04 | 2.4E-04 |
|
0.700 | 1.000 | 1 | 2000 | 2000 | |||||||
|
1.000 | 0.080 | 8 | 17646137 | missense variant | T/C | snv | 3.0E-04 | 2.0E-04 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | |||||||
|
1.000 | 0.080 | 8 | 17755585 | stop gained | G/A;T | snv | 1.6E-05; 2.4E-03 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.080 | 14 | 54411563 | missense variant | C/A;G | snv | 4.0E-06; 2.4E-05 |
|
0.700 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
1.000 | 0.080 | 16 | 298233 | missense variant | C/T | snv | 4.8E-03 | 2.3E-02 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 16 | 297063 | missense variant | C/A;T | snv | 8.0E-06; 1.6E-02 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 3 | 41224579 | missense variant | A/C | snv | 7.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 8 | 17713220 | missense variant | T/G | snv | 6.3E-04 | 2.6E-04 |
|
0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 11 | 20376622 | missense variant | G/A;T | snv | 8.0E-06; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 16 | 310055 | missense variant | G/A | snv | 2.0E-05 | 1.4E-05 |
|
0.700 | 0 |