| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2016 | 2019 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.020 | 1.000 | 2 | 2016 | 2019 | |||||
|
5 | 0.882 | 0.040 | 3 | 169862183 | intron variant | G/A | snv | 0.25 | 0.020 | 1.000 | 2 | 2014 | 2015 | ||||
|
16 | 0.742 | 0.160 | 1 | 226064451 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
28 | 0.683 | 0.080 | 1 | 226064434 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
17 | 0.742 | 0.080 | 6 | 27872233 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.882 | 0.040 | 4 | 121673909 | intron variant | T/C | snv | 8.3E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
96 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
14 | 0.763 | 0.080 | 1 | 226064454 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
22 | 0.683 | 0.520 | 16 | 27362859 | missense variant | T/C | snv | 0.16 | 0.22 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
3 | 0.882 | 0.080 | 16 | 27363606 | missense variant | T/G | snv | 6.4E-02 | 0.13 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
7 | 0.851 | 0.080 | 14 | 32823537 | synonymous variant | A/C | snv | 0.60 | 0.65 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
5 | 0.882 | 0.040 | 7 | 54911231 | intergenic variant | C/T | snv | 0.27 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
25 | 0.653 | 0.400 | 19 | 45423658 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.882 | 0.040 | 17 | 80947993 | intron variant | G/A | snv | 0.34 | 0.010 | 1.000 | 1 | 2016 | 2016 |