Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 5 | 150054414 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 5 | 150056335 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 14 | 73173651 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 14 | 73186881 | inframe insertion | -/TAT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 14 | 73217173 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 14 | 73219182 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 44349552 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 46018704 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 121558698 | missense variant | A/G | snv | 4.0E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
5 | 0.851 | 0.120 | 14 | 73192760 | missense variant | A/C;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 14 | 73206385 | splice acceptor variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 121589385 | missense variant | A/G | snv | 6.8E-05 | 5.6E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 9 | 35066711 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
10 | 0.790 | 0.120 | 14 | 73186860 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 1996 | 1996 | |||||
|
2 | 0.925 | 0.080 | 1 | 226885669 | missense variant | G/A | snv | 2.4E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 1996 | 1996 | |||
|
2 | 0.925 | 0.080 | 14 | 73173630 | missense variant | A/G;T | snv | 0.010 | 1.000 | 1 | 1997 | 1997 | |||||
|
3 | 0.925 | 0.080 | 21 | 25911833 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||
|
42 | 0.623 | 0.520 | X | 114731326 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
3 | 0.882 | 0.080 | 14 | 73186859 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
5 | 0.925 | 0.080 | 14 | 73198106 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
6 | 0.807 | 0.120 | 14 | 73217147 | missense variant | G/C | snv | 0.020 | 1.000 | 2 | 1999 | 1999 | |||||
|
7 | 0.807 | 0.120 | 14 | 73192844 | missense variant | T/C | snv | 0.020 | 1.000 | 2 | 1998 | 2000 | |||||
|
3 | 0.882 | 0.200 | 21 | 26051053 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
2 | 0.925 | 0.120 | 14 | 94614466 | missense variant | G/A;C | snv | 0.45 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
1 | 1.000 | 0.080 | 14 | 94614480 | synonymous variant | G/A | snv | 5.6E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 |