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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.120 | 14 | 73186860 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 1996 | 1996 | |||||||||
|
0.925 | 0.080 | 1 | 226885669 | missense variant | G/A | snv | 2.4E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 1996 | 1996 | |||||||
|
0.925 | 0.080 | 14 | 73173630 | missense variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 1997 | 1997 | |||||||||
|
0.925 | 0.080 | 21 | 25911833 | missense variant | A/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 1998 | 1998 | ||||||||
|
0.623 | 0.520 | X | 114731326 | missense variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||||
|
0.882 | 0.080 | 14 | 73186859 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||||
|
0.925 | 0.080 | 14 | 73198106 | missense variant | T/G | snv |
|
0.010 | 1.000 | 1 | 1998 | 1998 | |||||||||
|
0.807 | 0.120 | 14 | 73217147 | missense variant | G/C | snv |
|
0.020 | 1.000 | 2 | 1999 | 1999 | |||||||||
|
0.807 | 0.120 | 14 | 73192844 | missense variant | T/C | snv |
|
0.020 | 1.000 | 2 | 1998 | 2000 | |||||||||
|
0.882 | 0.200 | 21 | 26051053 | missense variant | C/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
0.925 | 0.120 | 14 | 94614466 | missense variant | G/A;C | snv | 0.45 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
1.000 | 0.080 | 14 | 94614480 | synonymous variant | G/A | snv | 5.6E-05 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||
|
0.851 | 0.160 | 20 | 4699466 | synonymous variant | A/G;T | snv | 4.0E-06; 1.4E-04 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
0.790 | 0.240 | 14 | 73192647 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||||
|
0.882 | 0.080 | 14 | 73170984 | missense variant | G/C | snv |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||||
|
0.851 | 0.160 | 14 | 73217210 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2000 | 2000 | |||||||||
|
1.000 | 0.080 | 12 | 57156809 | missense variant | G/A | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
1.000 | 0.080 | 21 | 26051030 | missense variant | C/G | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.925 | 0.080 | 4 | 184638460 | 5 prime UTR variant | C/T | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.742 | 0.280 | 21 | 25891856 | missense variant | C/G;T | snv |
|
0.020 | 1.000 | 2 | 2000 | 2002 | |||||||||
|
0.882 | 0.200 | 13 | 32326591 | synonymous variant | C/T | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
0.827 | 0.240 | 8 | 90042766 | missense variant | T/C | snv | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
0.882 | 0.200 | X | 154534463 | missense variant | G/A;C | snv | 2.8E-04; 5.5E-06 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
0.882 | 0.200 | 3 | 10039759 | synonymous variant | T/C | snv | 4.0E-05 | 2.2E-04 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.882 | 0.080 | 14 | 73170974 | missense variant | G/T | snv |
|
0.010 | 1.000 | 1 | 2002 | 2002 |