| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
21 | 0.708 | 0.400 | 3 | 41224646 | missense variant | C/A;G;T | snv | 0.820 | 1.000 | 3 | 2016 | 2018 | |||||
|
12 | 0.763 | 0.240 | 3 | 41224645 | missense variant | T/C;G | snv | 0.810 | 1.000 | 2 | 2015 | 2016 | |||||
|
11 | 0.763 | 0.240 | 3 | 41224634 | missense variant | C/A;T | snv | 0.810 | 1.000 | 2 | 2015 | 2016 | |||||
|
14 | 0.742 | 0.200 | 3 | 41224621 | missense variant | T/C;G | snv | 0.800 | 1.000 | 1 | 2016 | 2016 | |||||
|
13 | 0.732 | 0.200 | 3 | 41224607 | missense variant | A/C;G;T | snv | 0.800 | 1.000 | 1 | 2016 | 2016 | |||||
|
13 | 0.724 | 0.200 | 3 | 41224612 | missense variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2016 | 2016 | |||||
|
26 | 0.683 | 0.360 | 3 | 41224610 | missense variant | C/A;G;T | snv | 0.800 | 1.000 | 1 | 2016 | 2016 | |||||
|
23 | 0.683 | 0.240 | 3 | 41224622 | missense variant | C/A;G;T | snv | 0.800 | 1.000 | 1 | 2016 | 2016 | |||||
|
19 | 0.724 | 0.280 | 3 | 41224633 | missense variant | A/C;G;T | snv | 0.800 | 1.000 | 1 | 2016 | 2016 | |||||
|
17 | 0.701 | 0.200 | 3 | 41224606 | missense variant | G/A;C;T | snv | 0.800 | 1.000 | 1 | 2016 | 2016 | |||||
|
17 | 0.695 | 0.240 | 3 | 41224613 | missense variant | G/A;C;T | snv | 0.710 | 1.000 | 3 | 2014 | 2016 | |||||
|
11 | 0.752 | 0.240 | 3 | 41224609 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 3 | 41224579 | missense variant | A/C | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 3 | 41233836 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
10 | 0.776 | 0.160 | 3 | 41224995 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.080 | 3 | 41227270 | stop gained | C/A;T | snv | 2.0E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
4 | 0.882 | 0.200 | 3 | 41198686 | 5 prime UTR variant | G/A | snv | 0.40 | 0.020 | 1.000 | 2 | 2016 | 2017 | ||||
|
14 | 0.742 | 0.320 | 3 | 41237949 | non coding transcript exon variant | A/G | snv | 0.19 | 0.020 | 1.000 | 2 | 2016 | 2017 | ||||
|
3 | 0.882 | 0.080 | 3 | 41238542 | intron variant | A/G | snv | 3.7E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 |