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 | 4 | 54728121 | missense variant | G/A | snv | 0.800 | 1.000 | 8 | 1991 | 2000 | |||||
|
3 | 0.925 | 0.200 | 4 | 54727515 | missense variant | G/A | snv | 0.800 | 1.000 | 8 | 1991 | 2000 | |||||
|
1 | 1.000 | 0.120 | 4 | 54736552 | missense variant | A/C | snv | 0.800 | 1.000 | 8 | 1991 | 2000 | |||||
|
1 | 1.000 | 0.120 | 4 | 54727519 | missense variant | T/G | snv | 0.800 | 1.000 | 8 | 1991 | 2000 | |||||
|
1 | 1.000 | 0.120 | 4 | 54727520 | missense variant | T/G | snv | 0.800 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 4 | 54733094 | missense variant | A/G | snv | 0.700 | 1.000 | 8 | 1991 | 2000 | |||||
|
4 | 1.000 | 0.120 | 4 | 54729344 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 54728055 | frameshift variant | AA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 54727448 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 54695696 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 54727928 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.120 | 4 | 54727907 | missense variant | T/C | snv | 0.030 | 1.000 | 3 | 2001 | 2006 | |||||
|
24 | 0.695 | 0.520 | 9 | 22003368 | 3 prime UTR variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
14 | 0.742 | 0.400 | 9 | 22043927 | intron variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
17 | 0.708 | 0.360 | 9 | 22033367 | non coding transcript exon variant | C/T | snv | 0.71 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
83 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.160 | 16 | 89919617 | missense variant | T/C | snv | 3.1E-03 | 1.1E-03 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
24 | 0.683 | 0.440 | 9 | 22068653 | intron variant | G/A | snv | 0.64 | 0.010 | 1.000 | 1 | 2015 | 2015 |