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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.200 | 14 | 102002546 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.080 | 14 | 102033157 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.882 | 0.200 | 14 | 102039416 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 10 | 102400738 | missense variant | G/A;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
67 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | X | 111301745 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 111330943 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 111330997 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 111331036 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | X | 111331042 | splice acceptor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 111333078 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 111333086 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 111333093 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | X | 111333108 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 111333113 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 111333117 | inframe deletion | TCA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 111333135 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 111401007 | missense variant | T/C;G | snv | 5.5E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | X | 111401012 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | X | 111401014 | frameshift variant | T/-;TT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 111401025 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 111401028 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 111401029 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 111401044 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | X | 111401054 | missense variant | A/G | snv | 0.700 | 0 |