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 | 4 | 80055996 | missense variant | C/T | snv | 0.810 | 1.000 | 3 | 2003 | 2005 | |||||
|
1 | 1.000 | 0.080 | 4 | 79983915 | missense variant | T/A;C | snv | 8.1E-06 | 0.800 | 1.000 | 3 | 2003 | 2005 | ||||
|
1 | 1.000 | 0.080 | 4 | 80008576 | missense variant | A/C | snv | 0.800 | 1.000 | 3 | 2003 | 2005 | |||||
|
1 | 1.000 | 0.080 | 4 | 80054342 | missense variant | A/G | snv | 0.800 | 1.000 | 3 | 2003 | 2005 | |||||
|
1 | 1.000 | 0.080 | 4 | 80036017 | missense variant | A/G | snv | 2.3E-05 | 0.700 | 1.000 | 3 | 2003 | 2005 | ||||
|
1 | 1.000 | 0.080 | 4 | 80072427 | missense variant | A/C;G | snv | 0.700 | 1.000 | 3 | 2003 | 2005 | |||||
|
1 | 1.000 | 0.080 | 4 | 80018898 | frameshift variant | ACATTCTGTGGCTGTGACAATTAATGATCCTGAAATGACAGATTTTCCTCCATTAAAGCTCACTGAAACATCAAGAGTT/- | del | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 4 | 79978049 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 4 | 80069491 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 4 | 80036011 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 4 | 80018939 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
28 | 0.752 | 0.320 | 4 | 79984831 | frameshift variant | -/G;GG | delins | 1.7E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 4 | 79983878 | splice region variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 4 | 79983909 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 4 | 80055957 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.080 | 13 | 81865224 | intergenic variant | A/G | snv | 1.1E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 13 | 81823326 | intergenic variant | A/G | snv | 1.1E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 1 | 39390663 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 1 | 39367374 | intron variant | T/A | snv | 3.7E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 18 | 657443 | intron variant | A/C | snv | 0.66 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.160 | 18 | 683607 | intron variant | C/T | snv | 0.63 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 18 | 700687 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 18 | 657352 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 1 | 20589097 | 5 prime UTR variant | C/- | delins | 0.54 | 0.56 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.080 | 1 | 11806987 | intron variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 |