| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.080 | 11 | 124891383 | missense variant | C/A;G | snv | 4.7E-06; 5.2E-05 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.080 | 11 | 124897049 | missense variant | C/A;T | snv | 6.8E-05 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.080 | 11 | 124895897 | missense variant | G/A | snv | 1.0E-04 | 8.4E-05 | 0.700 | 0 | ||||||
|
2 | 1.000 | 0.080 | 11 | 124887166 | missense variant | GC/AG | mnv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 11 | 124894286 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 11 | 124897142 | missense variant | G/A;T | snv | 2.0E-04 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.080 | 11 | 124891545 | stop gained | G/A;C | snv | 8.0E-05 | 0.700 | 0 | |||||||
|
15 | 0.732 | 0.200 | 15 | 48420752 | missense variant | A/G;T | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.080 | 11 | 124891736 | frameshift variant | GTCCCGAGAGCCAG/- | delins | 6.4E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
2 | 1.000 | 0.080 | 11 | 124895654 | missense variant | T/G | snv | 1.6E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | 1.000 | 0.080 | 11 | 124887732 | splice donor variant | C/A;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.080 | 11 | 124895852 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.882 | 0.040 | 15 | 48622729 | intron variant | A/G | snv | 0.24 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.851 | 0.160 | 15 | 48487396 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 1995 | 1995 | |||||
|
6 | 0.851 | 0.040 | 15 | 48623687 | intron variant | T/C | snv | 0.23 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.080 | 9 | 136508288 | missense variant | G/C | snv | 8.1E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 |