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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.080 | 12 | 48981230 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
39 | 0.633 | 0.600 | 3 | 122284910 | missense variant | G/T | snv | 0.13 | 0.11 | 0.020 | < 0.001 | 2 | 2003 | 2007 | |||
|
2 | 0.925 | 0.120 | 7 | 22729088 | intron variant | T/A;G | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
21 | 0.689 | 0.520 | 12 | 121177300 | missense variant | G/A;T | snv | 0.35; 4.0E-06 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
16 | 0.716 | 0.440 | 1 | 65610269 | missense variant | G/C;T | snv | 0.16; 4.0E-06 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | X | 31223056 | missense variant | C/A;T | snv | 4.4E-05; 1.1E-05 | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.080 | X | 31223083 | missense variant | C/A | snv | 7.6E-05 | 6.6E-05 | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||
|
2 | 0.925 | 0.120 | 1 | 23874672 | missense variant | G/A;T | snv | 0.10; 8.0E-06 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
6 | 0.807 | 0.360 | 12 | 121177328 | missense variant | C/G | snv | 0.14 | 0.12 | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 0.080 | 12 | 102480984 | intron variant | A/G;T | snv | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||
|
5 | 0.827 | 0.240 | 12 | 12148964 | missense variant | C/T | snv | 0.85 | 0.84 | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||
|
8 | 0.807 | 0.160 | 20 | 6778468 | missense variant | A/G;T | snv | 0.67 | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||
|
3 | 0.882 | 0.200 | 12 | 121132209 | upstream gene variant | C/A;T | snv | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.200 | 5 | 42631162 | intron variant | T/C | snv | 0.31 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | X | 32386352 | missense variant | T/A | snv | 5.5E-06 | 1.9E-05 | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||
|
5 | 0.851 | 0.160 | 12 | 121167552 | missense variant | G/A;C | snv | 0.25; 4.0E-06 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
12 | 0.807 | 0.200 | 12 | 102431143 | intron variant | T/C | snv | 0.70 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.080 | 13 | 42566423 | intron variant | G/A | snv | 0.18 | 0.020 | 0.500 | 2 | 2018 | 2019 | ||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.020 | 0.500 | 2 | 2014 | 2019 | ||||
|
3 | 0.882 | 0.120 | 20 | 6770235 | missense variant | T/C;G | snv | 2.4E-02 | 0.020 | 0.500 | 2 | 2006 | 2008 | ||||
|
4 | 0.882 | 0.120 | 18 | 62414860 | upstream gene variant | A/G | snv | 0.67 | 0.020 | 0.500 | 2 | 2018 | 2019 | ||||
|
1 | 1.000 | 0.080 | 1 | 23787639 | 3 prime UTR variant | G/A | snv | 0.64 | 0.020 | 0.500 | 2 | 2015 | 2019 | ||||
|
19 | 0.716 | 0.480 | 8 | 118951813 | missense variant | G/C | snv | 0.52 | 0.60 | 0.030 | 0.667 | 3 | 2014 | 2018 | |||
|
4 | 0.851 | 0.160 | 11 | 68406721 | missense variant | G/A;C | snv | 3.8E-02 | 0.040 | 0.750 | 4 | 2005 | 2019 | ||||
|
13 | 0.752 | 0.400 | 11 | 68433827 | missense variant | C/T | snv | 0.13 | 0.11 | 0.090 | 1.000 | 9 | 2005 | 2017 |