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 | 12 | 120978923 | missense variant | GC/CT | mnv |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||||
|
0.925 | 0.120 | 6 | 32758877 | missense variant | G/A;T | snv | 4.0E-06; 8.1E-06 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
1.000 | 0.040 | 20 | 44414567 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||
|
0.925 | 0.080 | 20 | 44414531 | missense variant | A/G | snv | 4.0E-06 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||
|
1.000 | 0.040 | 20 | 44413723 | missense variant | A/C;G | snv | 4.0E-06; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
0.925 | 0.120 | 6 | 32661407 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||||
|
0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.925 | 0.200 | 12 | 21378325 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
1.000 | 0.040 | 1 | 26911982 | missense variant | G/A | snv | 6.0E-05 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||
|
0.882 | 0.080 | 4 | 140562317 | missense variant | T/A | snv | 8.9E-02 | 6.5E-02 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||
|
0.925 | 0.120 | 10 | 95432529 | missense variant | G/A | snv | 1.4E-04 | 4.2E-05 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||
|
1.000 | 0.040 | 12 | 120999579 | missense variant | A/G | snv | 1.00 | 0.99 |
|
0.020 | 1.000 | 2 | 2000 | 2002 | |||||||
|
0.851 | 0.160 | 17 | 81809839 | missense variant | G/A | snv | 7.4E-03 | 6.3E-03 |
|
0.020 | 1.000 | 2 | 1995 | 2002 | |||||||
|
0.763 | 0.120 | 16 | 84845883 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.020 | 1.000 | 2 | 2002 | 2002 | |||||||
|
0.882 | 0.120 | 2 | 162147429 | missense variant | T/C | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
0.925 | 0.080 | 7 | 44145167 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
0.677 | 0.280 | 7 | 142750639 | missense variant | A/G | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
1.000 | 0.040 | 2 | 162144091 | missense variant | T/C;G | snv | 2.7E-03 |
|
0.010 | < 0.001 | 1 | 2002 | 2002 | ||||||||
|
0.882 | 0.160 | 11 | 6269890 | missense variant | G/A | snv | 4.4E-02 | 5.1E-02 |
|
0.010 | < 0.001 | 1 | 2002 | 2002 | |||||||
|
0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 |
|
0.010 | < 0.001 | 1 | 2002 | 2002 | ||||||||
|
0.637 | 0.480 | 8 | 19956018 | missense variant | A/G | snv | 1.3E-02 | 1.3E-02 |
|
0.020 | 1.000 | 2 | 2000 | 2003 | |||||||
|
0.882 | 0.120 | 7 | 127614533 | missense variant | G/A;T | snv | 1.2E-04; 9.1E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.732 | 0.400 | 8 | 19954222 | missense variant | G/A;C | snv | 1.9E-04 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
1.000 | X | 30707584 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||||
|
0.653 | 0.600 | 2 | 218395009 | missense variant | G/A;C | snv | 4.9E-02; 4.1E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 |