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 | 0.080 | 2 | 233760331 | missense variant | T/G | snv |
|
0.800 | 1.000 | 16 | 1993 | 2013 | |||||||||
|
0.925 | 0.080 | 2 | 233768265 | missense variant | G/T | snv | 7.0E-06 |
|
0.700 | 1.000 | 16 | 1993 | 2013 | ||||||||
|
0.925 | 0.080 | 2 | 233767858 | missense variant | C/T | snv | 8.0E-06; 4.0E-06 | 1.4E-05 |
|
0.700 | 1.000 | 16 | 1993 | 2013 | |||||||
|
1.000 | 0.080 | 2 | 233768333 | missense variant | A/C;G | snv | 4.0E-06; 2.8E-05 |
|
0.700 | 1.000 | 16 | 1993 | 2013 | ||||||||
|
0.827 | 0.120 | 2 | 233772413 | missense variant | T/A;C;G | snv | 2.2E-04 |
|
0.880 | 1.000 | 16 | 1993 | 2018 | ||||||||
|
0.925 | 0.080 | 2 | 233760961 | missense variant | T/G | snv | 5.9E-04 | 3.6E-04 |
|
0.700 | 1.000 | 16 | 1993 | 2013 | |||||||
|
1.000 | 0.080 | 2 | 233761122 | missense variant | A/T | snv | 2.8E-05 | 2.8E-05 |
|
0.700 | 1.000 | 16 | 1993 | 2013 | |||||||
|
0.701 | 0.440 | 2 | 233760498 | missense variant | G/A | snv | 2.2E-02 | 9.2E-03 |
|
0.750 | 1.000 | 16 | 1993 | 2018 | |||||||
|
0.882 | 0.120 | 2 | 233768234 | missense variant | C/G;T | snv | 2.0E-05 |
|
0.700 | 1.000 | 16 | 1993 | 2013 | ||||||||
|
1.000 | 0.080 | 2 | 233760811 | missense variant | T/A | snv | 4.8E-05 | 3.5E-05 |
|
0.700 | 1.000 | 16 | 1993 | 2013 | |||||||
|
0.925 | 0.080 | 2 | 233760912 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 3.2E-05 |
|
0.700 | 1.000 | 16 | 1993 | 2013 | ||||||||
|
0.925 | 0.080 | 2 | 233767050 | missense variant | T/C | snv |
|
0.700 | 1.000 | 16 | 1993 | 2013 | |||||||||
|
1.000 | 0.080 | 2 | 233767161 | missense variant | A/G | snv | 4.0E-06 | 2.1E-05 |
|
0.800 | 1.000 | 16 | 1993 | 2013 | |||||||
|
1.000 | 0.080 | 2 | 233768243 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 |
|
0.700 | 1.000 | 16 | 1993 | 2013 | |||||||
|
1.000 | 0.080 | 2 | 233760976 | missense variant | A/G | snv | 4.0E-06 |
|
0.700 | 1.000 | 16 | 1993 | 2013 | ||||||||
|
1.000 | 0.080 | 2 | 233768342 | missense variant | C/A;T | snv | 3.6E-05 |
|
0.700 | 1.000 | 16 | 1993 | 2013 | ||||||||
|
0.925 | 0.080 | 2 | 233768265 | missense variant | G/T | snv | 7.0E-06 |
|
0.700 | 1.000 | 10 | 1992 | 2013 | ||||||||
|
1.000 | 0.080 | 2 | 233768319 | missense variant | G/A;C;T | snv | 6.4E-05; 1.6E-05 |
|
0.700 | 1.000 | 10 | 1992 | 2013 | ||||||||
|
0.925 | 0.080 | 2 | 233767092 | missense variant | G/A | snv | 1.2E-05 |
|
0.810 | 1.000 | 10 | 1992 | 2013 | ||||||||
|
1.000 | 0.080 | 2 | 233760402 | missense variant | C/G | snv |
|
0.700 | 1.000 | 10 | 1992 | 2013 | |||||||||
|
1.000 | 0.080 | 2 | 233760816 | missense variant | T/C | snv | 4.0E-06 |
|
0.700 | 1.000 | 10 | 1992 | 2013 | ||||||||
|
1.000 | 0.080 | 2 | 233761113 | missense variant | G/C;T | snv | 8.0E-06; 4.0E-06 |
|
0.700 | 1.000 | 10 | 1992 | 2013 | ||||||||
|
1.000 | 0.080 | 2 | 233767922 | missense variant | A/G | snv | 4.0E-06 |
|
0.810 | 1.000 | 10 | 1992 | 2013 | ||||||||
|
1.000 | 0.080 | 2 | 233768237 | missense variant | G/A | snv |
|
0.700 | 1.000 | 10 | 1992 | 2013 | |||||||||
|
1.000 | 0.080 | 2 | 233768259 | missense variant | C/T | snv | 7.0E-06 |
|
0.800 | 1.000 | 10 | 1992 | 2013 |