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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
13 | 0.752 | 0.240 | 12 | 47857185 | missense variant | G/A | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
9 | 0.763 | 0.200 | 17 | 64356203 | missense variant | C/A;T | snv | 0.38 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
115 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
28 | 0.672 | 0.320 | 2 | 203866282 | upstream gene variant | A/G;T | snv | 0.16 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
7 | 0.790 | 0.280 | 6 | 33087030 | 3 prime UTR variant | A/G | snv | 0.38 | 0.020 | 0.500 | 2 | 2015 | 2018 | ||||
|
1 | 1.000 | 0.040 | 10 | 102627177 | splice region variant | T/C | snv | 0.16 | 0.15 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.040 | 10 | 102631528 | 3 prime UTR variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
11 | 0.752 | 0.360 | 4 | 101829919 | missense variant | G/A;T | snv | 0.26; 8.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
78 | 0.547 | 0.760 | 19 | 41354391 | intron variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
107 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.882 | 0.080 | 1 | 167451188 | intron variant | T/G | snv | 0.30 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
42 | 0.620 | 0.680 | X | 49261784 | intron variant | G/A;T | snv | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||||
|
4 | 0.851 | 0.160 | 6 | 33075103 | intron variant | A/G | snv | 0.19 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
25 | 0.672 | 0.160 | 9 | 130872896 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
8 | 0.807 | 0.160 | 4 | 99594840 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.040 | 2 | 79161461 | intron variant | G/A | snv | 0.49 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
10 | 0.827 | 0.200 | 2 | 241851760 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.040 | 7 | 128400698 | non coding transcript exon variant | C/T | snv | 0.47 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
8 | 0.807 | 0.280 | 2 | 241859444 | upstream gene variant | C/T | snv | 5.4E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.827 | 0.200 | 4 | 83320204 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
5 | 0.851 | 0.160 | 1 | 154427539 | intron variant | G/T | snv | 0.53 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | 1 | 179293868 | 5 prime UTR variant | G/A | snv | 0.24 | 0.010 | 1.000 | 1 | 2020 | 2020 |