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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
52 | 0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 | 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 | ||||
|
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 | ||||
|
10 | 0.752 | 0.320 | 8 | 89955483 | synonymous variant | A/G | snv | 0.47 | 0.51 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
13 | 0.742 | 0.360 | 1 | 223111186 | missense variant | A/G | snv | 0.39 | 0.34 | 0.020 | 1.000 | 2 | 2017 | 2018 | |||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
14 | 0.724 | 0.440 | 12 | 57764205 | intron variant | A/G | snv | 0.38 | 0.32 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.080 | 6 | 31271640 | missense variant | C/A;G;T | snv | 0.37 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 6 | 31271630 | missense variant | G/A;T | snv | 0.37 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
41 | 0.605 | 0.600 | 8 | 89978251 | missense variant | C/G | snv | 0.35 | 0.31 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
15 | 0.742 | 0.280 | 4 | 186083063 | missense variant | C/A;T | snv | 0.30 | 0.020 | 1.000 | 2 | 2015 | 2016 | ||||
|
1 | 1.000 | 0.080 | 6 | 30925350 | missense variant | G/A | snv | 0.29 | 0.23 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
48 | 0.600 | 0.600 | 5 | 1293971 | synonymous variant | C/T | snv | 0.29 | 0.22 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
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 | ||||
|
88 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 0.050 | 0.800 | 5 | 2013 | 2018 | |||
|
10 | 0.776 | 0.400 | 1 | 207580276 | missense variant | A/G | snv | 0.25 | 0.21 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.882 | 0.160 | 19 | 39247938 | missense variant | G/A | snv | 0.25 | 8.1E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
12 | 0.742 | 0.440 | 11 | 34461361 | synonymous variant | C/T | snv | 0.25 | 0.22 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
4 | 0.851 | 0.160 | 22 | 43937292 | intron variant | A/G | snv | 0.25 | 0.20 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
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 | ||||
|
8 | 0.827 | 0.200 | 22 | 43932850 | intron variant | G/A | snv | 0.24 | 0.18 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
19 | 0.689 | 0.480 | 5 | 83353124 | splice acceptor variant | G/A | snv | 0.23 | 0.25 | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||
|
17 | 0.701 | 0.400 | 21 | 33415005 | missense variant | A/G | snv | 0.20 | 0.18 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.080 | 6 | 29975258 | non coding transcript exon variant | G/A | snv | 0.19 | 0.22 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
10 | 0.776 | 0.480 | 6 | 31883457 | non coding transcript exon variant | A/G | snv | 0.18 | 0.20 | 0.010 | 1.000 | 1 | 2019 | 2019 |