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 | 202596928 | inframe deletion | ATAGTC/- | delins | 0.700 | 0 | ||||||||||
|
4 | 12 | 6939148 | missense variant | A/G | snv | 0.700 | 0 | ||||||||||
|
4 | 1.000 | 6 | 158114826 | frameshift variant | -/ATAG | delins | 1.5E-04 | 1.5E-04 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.040 | 10 | 79938112 | missense variant | A/T | snv | 9.9E-02 | 6.5E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
14 | 0.752 | 0.080 | 6 | 12292539 | intron variant | G/C;T | snv | 0.45 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 1.000 | 0.080 | 4 | 145639572 | stop gained | C/T | snv | 1.6E-04 | 1.7E-04 | 0.700 | 0 | ||||||
|
3 | 1.000 | 0.080 | 13 | 20189094 | missense variant | A/G | snv | 2.8E-05 | 0.700 | 0 | |||||||
|
3 | 1.000 | 0.080 | 16 | 2319842 | splice acceptor variant | T/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
14 | 0.882 | 0.120 | 8 | 22162694 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.160 | 6 | 53016099 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.851 | 0.160 | 11 | 68908632 | splice donor variant | G/A | snv | 1.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
7 | 0.925 | 0.160 | 11 | 68906074 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.280 | 10 | 49627681 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
14 | 0.752 | 0.360 | 10 | 79946568 | missense variant | A/G | snv | 0.47 | 0.42 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
37 | 0.752 | 0.360 | 12 | 51699663 | stop gained | T/A;C | snv | 0.700 | 0 | ||||||||
|
73 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 |