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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.807 | 0.280 | 3 | 97787991 | frameshift variant | TAT/GAAAA | delins | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.160 | 11 | 64807890 | splice region variant | C/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 3 | 149178537 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.120 | 1 | 146018352 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.160 | 1 | 146018661 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
22 | 0.752 | 0.320 | 16 | 8811153 | missense variant | G/A | snv | 4.1E-03 | 3.7E-03 | 0.700 | 0 | ||||||
|
3 | 0.925 | 0.120 | 3 | 149177980 | splice acceptor variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.160 | 11 | 17387594 | stop gained | G/C;T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 11 | 17387407 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 11 | 17387104 | missense variant | A/G | snv | 0.700 | 0 | ||||||||||
|
7 | 0.882 | 0.240 | X | 24076757 | frameshift variant | TCAA/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.120 | 11 | 17387128 | missense variant | C/T | snv | 0.710 | < 0.001 | 1 | 2012 | 2012 | |||||
|
6 | 0.827 | 0.280 | 11 | 17387491 | missense variant | G/A | snv | 0.710 | 1.000 | 1 | 2005 | 2005 | |||||
|
3 | 1.000 | 0.040 | 21 | 43992991 | downstream gene variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
12 | 0.925 | 0.080 | 7 | 151717955 | intron variant | A/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
9 | 1.000 | 0.040 | 7 | 151716108 | intron variant | T/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
25 | 0.776 | 0.240 | 19 | 19296909 | intron variant | T/C | snv | 0.10 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
34 | 0.827 | 0.200 | 2 | 210675783 | missense variant | C/A | snv | 0.30 | 0.33 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 1.000 | 0.040 | 2 | 192049636 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
4 | 0.882 | 0.120 | 9 | 22077086 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 1.000 | 0.040 | 5 | 34504693 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 1.000 | 0.040 | 2 | 43650017 | intron variant | A/G | snv | 0.21 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 1.000 | 0.040 | 2 | 43636315 | upstream gene variant | A/C | snv | 0.17 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.827 | 0.120 | 14 | 81151652 | intron variant | G/A | snv | 4.7E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.851 | 0.160 | 16 | 20389517 | intron variant | C/T | snv | 0.23 | 0.700 | 1.000 | 1 | 2018 | 2018 |