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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.240 | 20 | 10658611 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 22 | 19761255 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.240 | 5 | 37058938 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
7 | 0.882 | 0.120 | X | 72572657 | frameshift variant | GG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | MT | 5954 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | MT | 6887 | inframe insertion | -/GGG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | MT | 6900 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | MT | 6925 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | MT | 6939 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | MT | 7638 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | MT | 9273 | protein altering variant | -/ATC | ins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | MT | 9429 | protein altering variant | -/CCC | ins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | MT | 9441 | inframe insertion | -/TTT | delins | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.080 | 8 | 105801714 | missense variant | G/A;T | snv | 3.4E-03; 4.0E-06 | 0.800 | 0 | |||||||
|
2 | 0.925 | 0.080 | 5 | 173235019 | missense variant | T/C;G | snv | 1.3E-04; 4.1E-06 | 0.700 | 0 | |||||||
|
19 | 0.763 | 0.280 | 8 | 60850546 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
33 | 0.662 | 0.280 | 10 | 43121968 | missense variant | T/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.080 | 8 | 11708337 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 5 | 173232888 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 3 | 1999 | 2003 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 1.000 | 0.080 | 8 | 11758339 | missense variant | C/A | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.120 | 20 | 10643807 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.800 | 1.000 | 2 | 2001 | 2010 | |||
|
1 | 1.000 | 0.080 | 18 | 22200684 | missense variant | G/C;T | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
7 | 0.807 | 0.080 | 8 | 11708799 | missense variant | C/T | snv | 7.3E-05 | 4.2E-05 | 0.710 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.080 | 19 | 18868791 | missense variant | A/G | snv | 1.1E-03 | 1.1E-04 | 0.700 | 1.000 | 1 | 2007 | 2007 |