| 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 | 22 | 40407252 | missense variant | T/C;G | snv | 4.0E-06; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
0.882 | 0.200 | 3 | 10049416 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
0.882 | 0.120 | 3 | 39412034 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 |
|
0.060 | 1.000 | 6 | 1998 | 2003 | |||||||
|
0.708 | 0.200 | 1 | 19666020 | synonymous variant | C/T | snv | 0.15; 8.0E-06 | 0.16 |
|
0.040 | 0.750 | 4 | 1999 | 2003 | |||||||
|
0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 |
|
0.020 | 0.500 | 2 | 2003 | 2003 | |||||||
|
0.882 | 0.120 | 3 | 119863583 | missense variant | G/A | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.882 | 0.120 | 14 | 77469161 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||||
|
0.882 | 0.120 | 17 | 45983865 | missense variant | C/T | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.882 | 0.080 | 21 | 25891730 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.925 | 0.080 | 11 | 1761421 | missense variant | A/G | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.882 | 0.080 | 21 | 25911840 | missense variant | C/T | snv | 3.8E-04 | 4.9E-04 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||
|
0.790 | 0.200 | 22 | 50625988 | missense variant | T/C | snv | 0.17 | 0.19 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||
|
1.000 | 0.080 | 9 | 104800523 | missense variant | T/C | snv |
|
0.010 | < 0.001 | 1 | 2003 | 2003 | |||||||||
|
1.000 | 0.080 | 1 | 156876441 | missense variant | G/A;C;T | snv | 0.22; 4.0E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.851 | 0.080 | 14 | 73198072 | missense variant | C/G | snv |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||||
|
0.790 | 0.080 | 14 | 73173642 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||||
|
0.882 | 0.120 | 22 | 21772907 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2003 | 2003 | |||||||||
|
1.000 | 0.080 | 10 | 49625616 | missense variant | C/G;T | snv | 8.7E-04 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.611 | 0.600 | 11 | 67586108 | missense variant | C/T | snv | 5.9E-02 | 5.5E-02 |
|
0.010 | < 0.001 | 1 | 2004 | 2004 | |||||||
|
1.000 | 0.080 | 21 | 25975217 | missense variant | C/G | snv |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.807 | 0.120 | 1 | 226888977 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.708 | 0.400 | 6 | 38682852 | missense variant | T/A;G | snv | 0.36 |
|
0.010 | < 0.001 | 1 | 2004 | 2004 | ||||||||
|
1.000 | 0.080 | 14 | 73173656 | missense variant | T/G | snv |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
1.000 | 0.080 | 17 | 45991503 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | < 0.001 | 1 | 2004 | 2004 | |||||||
|
1.000 | 0.080 | 13 | 32326275 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2005 | 2005 |