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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.807 | 0.160 | X | 101401752 | missense variant | C/G;T | snv | 5.5E-04 | 0.860 | 1.000 | 18 | 1989 | 2018 | ||||
|
2 | 0.776 | 0.280 | X | 101398942 | missense variant | T/C | snv | 5.5E-06 | 0.860 | 1.000 | 18 | 1989 | 2018 | ||||
|
3 | 0.882 | 0.160 | X | 101398467 | missense variant | C/A;T | snv | 0.840 | 1.000 | 20 | 1989 | 2019 | |||||
|
1 | 1.000 | 0.160 | X | 101403846 | missense variant | G/A | snv | 0.830 | 1.000 | 6 | 1989 | 2019 | |||||
|
1 | 1.000 | 0.160 | X | 101403843 | missense variant | A/G;T | snv | 0.830 | 1.000 | 1 | 2002 | 2020 | |||||
|
1 | 1.000 | 0.160 | X | 101407710 | missense variant | C/G | snv | 0.820 | 1.000 | 0 | 1989 | 2017 | |||||
|
1 | 1.000 | 0.160 | X | 101398074 | missense variant | C/T | snv | 9.4E-06 | 0.810 | 1.000 | 7 | 1989 | 2017 | ||||
|
1 | 1.000 | 0.160 | X | 101407786 | missense variant | G/A | snv | 0.810 | 1.000 | 6 | 1989 | 2017 | |||||
|
1 | 1.000 | 0.160 | X | 101398078 | stop gained | C/A;T | snv | 0.810 | 1.000 | 3 | 1999 | 2017 | |||||
|
1 | 1.000 | 0.160 | X | 101403908 | missense variant | A/G;T | snv | 0.810 | 1.000 | 1 | 2009 | 2016 | |||||
|
1 | 0.925 | 0.200 | X | 101397871 | missense variant | T/C | snv | 0.810 | 1.000 | 0 | 1989 | 2017 | |||||
|
1 | 0.925 | 0.200 | X | 101401713 | missense variant | C/T | snv | 0.810 | 1.000 | 0 | 1989 | 2017 | |||||
|
1 | 1.000 | 0.160 | X | 101398018 | missense variant | C/G;T | snv | 0.810 | 1.000 | 0 | 1989 | 2020 | |||||
|
1 | 1.000 | 0.160 | X | 101407780 | missense variant | T/C;G | snv | 9.4E-06 | 0.810 | 1.000 | 0 | 2002 | 2017 | ||||
|
1 | 1.000 | 0.160 | X | 101398033 | missense variant | G/A | snv | 0.800 | 1.000 | 14 | 1989 | 2017 | |||||
|
1 | 1.000 | 0.160 | X | 101403845 | missense variant | C/A;T | snv | 1.1E-05 | 0.800 | 1.000 | 13 | 1989 | 2017 | ||||
|
1 | 1.000 | 0.160 | X | 101398906 | missense variant | C/G;T | snv | 0.800 | 1.000 | 10 | 1989 | 2017 | |||||
|
1 | 1.000 | 0.160 | X | 101398011 | missense variant | C/T | snv | 5.5E-05 | 1.3E-04 | 0.800 | 1.000 | 7 | 2001 | 2017 | |||
|
2 | 1.000 | 0.160 | X | 101400692 | missense variant | G/C;T | snv | 0.800 | 1.000 | 7 | 1989 | 2016 | |||||
|
2 | 0.925 | 0.160 | X | 101397982 | missense variant | C/T | snv | 0.800 | 1.000 | 7 | 1995 | 2017 | |||||
|
1 | 1.000 | 0.160 | X | 101398796 | missense variant | C/A;T | snv | 5.5E-06 | 0.800 | 1.000 | 6 | 2002 | 2017 | ||||
|
1 | 1.000 | 0.160 | X | 101398795 | missense variant | T/A | snv | 0.800 | 1.000 | 5 | 1989 | 2017 | |||||
|
1 | 1.000 | 0.160 | X | 101407779 | missense variant | A/G | snv | 0.800 | 1.000 | 5 | 1989 | 2017 | |||||
|
1 | 1.000 | 0.160 | X | 101400700 | missense variant | C/G;T | snv | 5.5E-06 | 0.800 | 1.000 | 5 | 1997 | 2017 | ||||
|
1 | 1.000 | 0.160 | X | 101401695 | missense variant | A/G | snv | 0.800 | 1.000 | 4 | 1989 | 2017 |