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 | 0.120 | 20 | 3083168 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 20 | 3083037 | missense variant | C/T | snv | 0.800 | 1.000 | 20 | 1992 | 2004 | |||||
|
1 | 1.000 | 0.120 | 20 | 3083156 | missense variant | C/A | snv | 0.800 | 1.000 | 20 | 1992 | 2004 | |||||
|
4 | 0.851 | 0.200 | 20 | 3083005 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 20 | 3083022 | missense variant | C/A | snv | 0.800 | 1.000 | 20 | 1992 | 2004 | |||||
|
1 | 1.000 | 0.120 | 20 | 3083012 | missense variant | C/A | snv | 0.800 | 1.000 | 20 | 1992 | 2004 | |||||
|
1 | 1.000 | 0.120 | 20 | 3083138 | missense variant | C/A | snv | 0.800 | 1.000 | 20 | 1992 | 2004 | |||||
|
1 | 1.000 | 0.120 | 20 | 3083139 | missense variant | C/G | snv | 0.800 | 1.000 | 20 | 1992 | 2004 | |||||
|
1 | 1.000 | 0.120 | 20 | 3082788 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 20 | 3083039 | missense variant | G/A | snv | 0.800 | 1.000 | 20 | 1992 | 2004 | |||||
|
1 | 1.000 | 0.120 | 20 | 3083024 | missense variant | C/T | snv | 0.800 | 1.000 | 20 | 1992 | 2004 | |||||
|
2 | 0.925 | 0.120 | 20 | 3084614 | missense variant | A/G | snv | 0.800 | 1.000 | 20 | 1992 | 2004 | |||||
|
5 | 0.827 | 0.240 | 6 | 50838070 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.120 | 20 | 3084598 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 0.700 | 1.000 | 20 | 1992 | 2004 | |||
|
61 | 0.570 | 0.760 | 5 | 132673462 | upstream gene variant | C/T | snv | 0.35 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 20 | 3083099 | missense variant | A/G | snv | 0.800 | 1.000 | 20 | 1992 | 2004 | |||||
|
1 | 1.000 | 0.120 | 20 | 3084620 | missense variant | C/T | snv | 0.800 | 1.000 | 20 | 1992 | 2004 | |||||
|
1 | 1.000 | 0.120 | 20 | 3084619 | missense variant | G/A | snv | 0.800 | 1.000 | 20 | 1992 | 2004 | |||||
|
64 | 0.566 | 0.800 | 4 | 73740307 | upstream gene variant | A/T | snv | 0.46 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 20 | 3082779 | missense variant | A/C | snv | 0.800 | 1.000 | 20 | 1992 | 2004 | |||||
|
87 | 0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins | 0.700 | 0 |