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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 0.742 | 0.280 | 4 | 186083063 | missense variant | C/A;T | snv | 0.30 | 0.020 | 1.000 | 2 | 2015 | 2016 | ||||
|
4 | 0.882 | 0.080 | 1 | 147760632 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 9 | 117713974 | stop gained | C/G;T | snv | 4.0E-06; 2.8E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.851 | 0.160 | 19 | 39254506 | downstream gene variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
10 | 0.763 | 0.120 | 11 | 2527959 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.080 | 6 | 31166310 | missense variant | C/G;T | snv | 0.14; 7.2E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.160 | 19 | 39244145 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 5 | 79884303 | intergenic variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.080 | 6 | 31271630 | missense variant | G/A;T | snv | 0.37 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.160 | X | 12885361 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
107 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
8 | 0.776 | 0.320 | 16 | 27362551 | missense variant | A/C;G;T | snv | 0.13; 1.2E-04; 3.6E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
10 | 0.763 | 0.480 | 17 | 42329511 | intron variant | G/A;C;T | snv | 2.8E-05; 0.59; 1.6E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 6 | 31271640 | missense variant | C/A;G;T | snv | 0.37 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
19 | 0.701 | 0.520 | 1 | 23875429 | missense variant | TT/CC | mnv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
15 | 0.742 | 0.280 | 19 | 39248514 | frameshift variant | TT/G;T | delins | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.882 | 0.160 | 22 | 43928850 | synonymous variant | C/T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
51 | 0.602 | 0.640 | 4 | 186082920 | missense variant | C/G;T | snv | 1.2E-04; 0.28 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
11 | 0.763 | 0.240 | 1 | 207616743 | missense variant | C/A;G | snv | 8.0E-06; 0.24 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
9 | 0.790 | 0.200 | 3 | 50612068 | 5 prime UTR variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
22 | 0.689 | 0.320 | 19 | 54173068 | missense variant | T/A;C;G | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
4 | 0.851 | 0.200 | 2 | 46349033 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
10 | 0.752 | 0.440 | 6 | 32762235 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.882 | 0.200 | 6 | 31943672 | missense variant | A/C | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 |