| 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 | 1 | 40073532 | 3 prime UTR variant | TGAT/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 40074068 | missense variant | A/C;G | snv | 0.800 | 1.000 | 7 | 1995 | 2012 | |||||
|
1 | 1.000 | 0.120 | 1 | 40074094 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 1 | 40074096 | missense variant | A/G | snv | 7.0E-06 | 0.800 | 1.000 | 7 | 1995 | 2012 | ||||
|
1 | 1.000 | 0.120 | 1 | 40074111 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 40074147 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 40074160 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2000 | 2000 | |||||
|
1 | 1.000 | 0.120 | 1 | 40074185 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 40076840 | splice donor variant | A/G | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.120 | 1 | 40076841 | splice donor variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 40076863 | frameshift variant | -/T | delins | 7.0E-06 | 0.700 | 1.000 | 2 | 2000 | 2013 | ||||
|
1 | 1.000 | 0.120 | 1 | 40076865 | stop gained | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 40076891 | missense variant | C/A;T | snv | 0.800 | 1.000 | 7 | 1995 | 2012 | |||||
|
1 | 1.000 | 0.120 | 1 | 40076901 | missense variant | A/G | snv | 8.0E-06 | 0.800 | 1.000 | 7 | 1995 | 2012 | ||||
|
1 | 1.000 | 0.120 | 1 | 40076915 | splice acceptor variant | T/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 1 | 40078565 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.160 | 1 | 40078573 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.160 | 1 | 40078579 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 40078603 | missense variant | A/C | snv | 0.800 | 1.000 | 7 | 1995 | 2012 | |||||
|
1 | 1.000 | 0.120 | 1 | 40078612 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 1 | 40078621 | missense variant | A/G | snv | 1.4E-05 | 0.800 | 1.000 | 7 | 1995 | 2012 | ||||
|
2 | 0.925 | 0.120 | 1 | 40078630 | missense variant | A/T | snv | 0.800 | 1.000 | 7 | 1995 | 2012 | |||||
|
1 | 1.000 | 0.120 | 1 | 40078632 | frameshift variant | -/T | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 1 | 40078642 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 1 | 40078659 | splice acceptor variant | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2000 | 2000 |