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 | 3 | 4410959 | missense variant | T/C | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 3 | 4420130 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 1.000 | 5 | 2003 | 2011 | ||||
|
1 | 1.000 | 0.120 | 3 | 4418065 | missense variant | G/A | snv | 2.0E-05 | 0.700 | 1.000 | 5 | 2003 | 2011 | ||||
|
1 | 1.000 | 0.120 | 3 | 4417171 | missense variant | G/A | snv | 2.5E-04 | 1.1E-04 | 0.700 | 1.000 | 5 | 2003 | 2011 | |||
|
1 | 1.000 | 0.120 | 3 | 4417192 | missense variant | T/A | snv | 2.5E-04 | 1.1E-04 | 0.700 | 1.000 | 5 | 2003 | 2011 | |||
|
1 | 1.000 | 0.120 | 3 | 4376365 | stop gained | G/A;C | snv | 0.700 | 1.000 | 3 | 2003 | 2011 | |||||
|
1 | 1.000 | 0.120 | 3 | 4467188 | missense variant | G/A;C | snv | 6.2E-05 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 3 | 4362193 | stop gained | G/A;T | snv | 3.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 3 | 4467244 | start lost | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 3 | 4467245 | start lost | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 3 | 4420124 | stop gained | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 3 | 4418074 | frameshift variant | C/- | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 3 | 4449258 | splice donor variant | TACT/- | delins | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 3 | 4467002 | stop gained | C/A;G;T | snv | 4.6E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 3 | 4452983 | missense variant | C/T | snv | 0.710 | 1.000 | 2 | 2011 | 2017 | |||||
|
1 | 1.000 | 0.120 | 3 | 4417183 | missense variant | T/C | snv | 0.710 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.120 | 3 | 4449322 | missense variant | A/G | snv | 7.6E-05 | 8.4E-05 | 0.800 | 1.000 | 11 | 2003 | 2017 | |||
|
1 | 1.000 | 0.120 | 3 | 4417132 | missense variant | G/A;C | snv | 9.2E-05; 4.0E-06 | 0.800 | 1.000 | 9 | 2003 | 2016 | ||||
|
1 | 1.000 | 0.120 | 3 | 4376338 | missense variant | A/G | snv | 0.800 | 1.000 | 6 | 2003 | 2013 | |||||
|
1 | 1.000 | 0.120 | 3 | 4362227 | missense variant | C/G | snv | 0.800 | 1.000 | 6 | 2003 | 2013 | |||||
|
1 | 1.000 | 0.120 | 3 | 4418082 | missense variant | C/T | snv | 8.0E-06 | 0.800 | 1.000 | 6 | 2003 | 2013 | ||||
|
1 | 1.000 | 0.120 | 3 | 4417180 | missense variant | C/A | snv | 0.800 | 1.000 | 6 | 2003 | 2013 | |||||
|
1 | 1.000 | 0.120 | 3 | 4417229 | missense variant | C/G | snv | 0.800 | 1.000 | 5 | 2005 | 2013 | |||||
|
1 | 1.000 | 0.120 | 3 | 4362223 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.810 | 1.000 | 7 | 2003 | 2018 | |||
|
1 | 1.000 | 0.120 | 3 | 4362236 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.810 | 1.000 | 7 | 2003 | 2018 |