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 | 0.925 | 0.120 | X | 49193294 | missense variant | G/A | snv | 1.4E-04 | 7.5E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 1.000 | 0.120 | 18 | 52925310 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 18 | 53386061 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 18 | 53386097 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 18 | 53207746 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 18 | 53391876 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 3 | 47088172 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.120 | 12 | 12435627 | splice acceptor variant | G/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.120 | 15 | 34255385 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 2 | 60546061 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 7 | 70766245 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | X | 111196503 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 18 | 53339775 | missense variant | A/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.120 | 18 | 52923832 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.120 | 18 | 53339808 | missense variant | G/A | snv | 1.5E-04 | 7.7E-05 | 0.700 | 0 | ||||||
|
2 | 1.000 | 0.120 | X | 155524537 | missense variant | G/A | snv | 5.5E-06 | 1.9E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.160 | 2 | 219572251 | intron variant | A/G | snv | 0.45 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.851 | 0.160 | 18 | 52923796 | frameshift variant | TTTCTGG/- | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.882 | 0.160 | 10 | 117134559 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
5 | 0.827 | 0.160 | 6 | 156829296 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
12 | 0.827 | 0.160 | 9 | 131506164 | inframe deletion | CTT/- | delins | 3.2E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
6 | 0.827 | 0.200 | 15 | 45043384 | synonymous variant | C/G;T | snv | 1.1E-05; 1.1E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.827 | 0.200 | 11 | 112088925 | synonymous variant | C/T | snv | 1.6E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
3 | 0.882 | 0.200 | 14 | 99175513 | missense variant | A/C;G | snv | 4.1E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.851 | 0.200 | X | 70329420 | missense variant | G/T | snv | 0.700 | 0 |