| 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 | 0.683 | 0.480 | 12 | 53961717 | upstream gene variant | C/T | snv | 0.38 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.040 | 19 | 10145541 | intron variant | G/A;T | snv | 0.11 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 19 | 10156590 | intron variant | C/A | snv | 0.13 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 2 | 184597314 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.040 | 8 | 141605122 | intron variant | C/T | snv | 0.26 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.160 | 4 | 148435252 | stop gained | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 7 | 73606109 | splice region variant | C/A;T | snv | 2.8E-02 | 3.0E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 1.000 | 0.040 | 9 | 23358877 | intron variant | A/C | snv | 0.32 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 7 | 147562137 | splice acceptor variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.882 | 0.120 | X | 100689933 | missense variant | G/A | snv | 5.6E-04 | 3.8E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
4 | 1.000 | 0.040 | 3 | 62495388 | intron variant | C/T | snv | 0.73 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 2 | 148468916 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.120 | 22 | 50721257 | frameshift variant | CT/- | del | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 5 | 88752044 | splice acceptor variant | C/A | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 10 | 87864353 | 5 prime UTR variant | -/G | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 10 | 87864406 | 5 prime UTR variant | -/C | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 11 | 687909 | splice donor variant | A/C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 11 | 70485988 | frameshift variant | TG/- | del | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.160 | 16 | 2086283 | frameshift variant | AAGGACTGCCA/- | del | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | X | 53254702 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 22 | 50465238 | stop gained | C/A | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
7 | 0.790 | 0.160 | X | 43768752 | intron variant | T/A;C | snv | 0.43 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 12 | 2607117 | stop gained | G/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.925 | 0.160 | 6 | 31557671 | synonymous variant | C/T | snv | 0.16 | 0.13 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.882 | 0.040 | 3 | 8759154 | intron variant | T/C | snv | 0.25 | 0.010 | 1.000 | 1 | 2019 | 2019 |