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 | 0.925 | 0.120 | 3 | 38736063 | intron variant | T/G | snv | 0.67 | 0.830 | 1.000 | 1 | 2013 | 2018 | ||||
|
1 | 1.000 | 0.080 | 3 | 38738568 | intron variant | T/C | snv | 0.41 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 3 | 38708884 | intron variant | A/G | snv | 0.71 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 3 | 38746306 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 3 | 38697226 | 3 prime UTR variant | G/A | snv | 0.44 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 3 | 38763097 | intron variant | C/T | snv | 0.74 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.807 | 0.200 | 3 | 38725184 | missense variant | A/G | snv | 0.65 | 0.70 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 1.000 | 0.080 | 3 | 38757345 | intron variant | C/T | snv | 0.70 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 3 | 38736700 | intron variant | T/C | snv | 0.59 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 3 | 38762148 | intron variant | G/A | snv | 0.66 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 3 | 38760760 | intron variant | A/G | snv | 0.33 | 0.31 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.080 | 3 | 38730503 | intron variant | A/G | snv | 0.38 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 3 | 38709556 | inframe deletion | AGA/- | delins | 0.700 | 0 |