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 | 1.000 | 0.120 | 1 | 204161355 | missense variant | C/T | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
18 | 0.776 | 0.160 | 1 | 155236376 | missense variant | C/T | snv | 1.0E-02 | 1.0E-02 | 0.700 | 0 | ||||||
|
35 | 0.658 | 0.520 | 1 | 155235843 | missense variant | T/C;G | snv | 2.3E-03 | 0.700 | 0 | |||||||
|
21 | 0.732 | 0.160 | 4 | 89835580 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
3 | 0.925 | 0.080 | 4 | 89720189 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
9 | 0.827 | 0.080 | 4 | 89828154 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
16 | 0.742 | 0.200 | 7 | 12244161 | downstream gene variant | A/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
12 | 0.807 | 0.200 | 7 | 12229791 | missense variant | C/A;G | snv | 0.49 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
11 | 0.827 | 0.280 | 7 | 143321720 | missense variant | GG/TC | mnv | 0.700 | 0 | ||||||||
|
35 | 0.716 | 0.320 | 9 | 97687208 | inframe deletion | ATTCTT/- | delins | 0.700 | 0 | ||||||||
|
35 | 0.716 | 0.320 | 9 | 97675476 | frameshift variant | AGTCTTACGGTACA/- | delins | 6.8E-05 | 6.3E-05 | 0.700 | 0 | ||||||
|
5 | 0.882 | 0.120 | 10 | 117226885 | TF binding site variant | G/A | snv | 0.19 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
78 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.020 | 1.000 | 2 | 2007 | 2010 | |||
|
3 | 1.000 | 0.040 | 12 | 40310449 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
8 | 0.851 | 0.120 | 12 | 4912055 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
37 | 0.752 | 0.360 | 12 | 51699663 | stop gained | T/A;C | snv | 0.700 | 0 | ||||||||
|
33 | 0.752 | 0.200 | 14 | 73217137 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
6 | 14 | 54844115 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.040 | 15 | 63044096 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.040 | 15 | 63057036 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
12 | 0.807 | 0.160 | 16 | 56336799 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
14 | 0.763 | 0.200 | 17 | 17811787 | splice region variant | G/A | snv | 0.45 | 0.33 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
3 | 1.000 | 0.120 | 17 | 31258502 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
7 | 0.827 | 0.160 | 17 | 63943846 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 1995 | 1995 | ||||
|
58 | 0.701 | 0.520 | 18 | 33740444 | splice donor variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |