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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
26 | 0.790 | 0.320 | 11 | 119093274 | stop lost | GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- | delins | 0.700 | 0 | ||||||||
|
15 | 0.790 | 0.320 | 18 | 6942110 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
7 | 0.882 | 0.120 | 8 | 19955993 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
7 | 0.882 | 0.120 | 8 | 19960948 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
95 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 0.020 | 1.000 | 2 | 2013 | 2018 | |||
|
19 | 0.708 | 0.240 | 11 | 113932306 | missense variant | A/C | snv | 0.33 | 0.36 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
2 | 3 | 128909410 | missense variant | C/T | snv | 7.2E-05 | 1.3E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
56 | 0.583 | 0.680 | 4 | 88131171 | missense variant | G/C;T | snv | 4.0E-06; 0.12 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 8 | 72539240 | intron variant | C/T | snv | 0.88 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||||
|
82 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 3 | 103172459 | intergenic variant | G/T | snv | 1.7E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 3 | 184060510 | 3 prime UTR variant | G/A | snv | 0.61 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 128906139 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 |