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 | 19 | 53889653 | missense variant | C/T | snv | 0.810 | 1.000 | 6 | 2002 | 2017 | |||||
|
1 | 1.000 | 0.080 | 19 | 53889735 | missense variant | G/A | snv | 0.810 | 1.000 | 4 | 2003 | 2017 | |||||
|
1 | 1.000 | 0.080 | 19 | 53889707 | missense variant | T/C | snv | 0.800 | 1.000 | 3 | 2003 | 2017 | |||||
|
1 | 1.000 | 0.080 | 19 | 53883180 | missense variant | G/T | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 1.000 | 0.080 | 19 | 53889655 | missense variant | C/G | snv | 0.720 | 1.000 | 2 | 2005 | 2018 | |||||
|
4 | 0.925 | 0.080 | 19 | 53889705 | missense variant | G/A | snv | 0.710 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.080 | 19 | 53889732 | missense variant | A/G | snv | 0.710 | 1.000 | 1 | 2003 | 2003 | |||||
|
1 | 1.000 | 0.080 | 19 | 53906728 | missense variant | T/C | snv | 0.710 | 1.000 | 1 | 2004 | 2004 | |||||
|
2 | 0.925 | 0.080 | 19 | 53889901 | missense variant | T/A;C | snv | 5.1E-06 | 0.710 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 19 | 53898100 | missense variant | A/C;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 53906435 | missense variant | C/T | snv | 1.6E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 19 | 53883189 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 53906892 | stop lost | GTAATCTCACCCGCCGCCACTAGGTGTCCCCAACGTCCCCTCCGCCGTGCCGGCGGCAGCCCCACTTCACCCCCAACTTCACCACCCCCTGTCCCATTCTAG/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 53882570 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 53882616 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 53884187 | missense variant | T/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 53889648 | inframe deletion | ACACAA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 53889693 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 53889708 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 53889719 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 53889720 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 53889743 | missense variant | T/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 19 | 53889744 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 53889905 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 53889937 | missense variant | GC/TT | mnv | 0.700 | 0 |