Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.160 | 19 | 44905894 | missense variant | G/C | snv | 7.0E-06 |
|
0.020 | < 0.001 | 2 | 2010 | 2011 | ||||||||
|
0.742 | 0.120 | 12 | 40363526 | missense variant | G/A | snv | 1.7E-03 | 5.8E-04 |
|
0.020 | < 0.001 | 2 | 2009 | 2010 | |||||||
|
0.590 | 0.800 | 6 | 159692720 | missense variant | G/A;T | snv | 8.0E-06 |
|
0.020 | < 0.001 | 2 | 2005 | 2016 | ||||||||
|
0.708 | 0.400 | 15 | 51210789 | 3 prime UTR variant | G/A | snv | 0.45 | 0.43 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.240 | 3 | 9750423 | missense variant | G/A;C | snv | 2.2E-03; 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.080 | 10 | 67521827 | intron variant | A/C | snv | 0.16 | 0.13 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.080 | 10 | 99880120 | missense variant | A/C;G | snv | 0.34; 8.0E-06 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.611 | 0.600 | 11 | 67586108 | missense variant | C/T | snv | 5.9E-02 | 5.5E-02 |
|
0.010 | < 0.001 | 1 | 2004 | 2004 | |||||||
|
1.000 | 0.080 | 15 | 51218505 | missense variant | T/A | snv | 0.45 | 0.42 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||
|
0.677 | 0.480 | 19 | 44908690 | missense variant | C/A;T | snv | 2.1E-05 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | ||||||||
|
0.882 | 0.080 | 2 | 25262866 | intron variant | C/T | snv | 0.45 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||||
|
0.807 | 0.120 | 7 | 56106409 | missense variant | G/A | snv | 9.3E-03 | 7.5E-03 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||
|
0.882 | 0.120 | 7 | 56104288 | missense variant | T/C | snv | 2.4E-05 | 2.8E-05 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||
|
0.882 | 0.240 | 10 | 92728044 | regulatory region variant | G/A | snv | 0.39 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.080 | 2 | 173019562 | intron variant | T/C;G | snv |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.240 | 9 | 104928169 | intron variant | G/A;C | snv |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 21 | 25881743 | missense variant | C/T | snv | 7.0E-06 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
0.807 | 0.200 | 17 | 30224647 | intron variant | G/A | snv | 0.34 |
|
0.010 | < 0.001 | 1 | 2020 | 2020 | ||||||||
|
0.882 | 0.120 | 9 | 104826974 | missense variant | C/G;T | snv | 4.3E-04; 5.4E-02 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||||
|
0.763 | 0.280 | 16 | 89919532 | missense variant | G/A;C | snv | 7.8E-02; 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.851 | 0.160 | 4 | 102872502 | intron variant | T/A;C | snv |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.080 | 9 | 104800523 | missense variant | T/C | snv |
|
0.010 | < 0.001 | 1 | 2003 | 2003 | |||||||||
|
0.925 | 0.120 | 19 | 1005231 | missense variant | C/T | snv | 0.36 | 0.41 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | |||||||
|
0.667 | 0.520 | 20 | 46013767 | missense variant | G/C;T | snv | 0.88; 1.6E-05 |
|
0.010 | < 0.001 | 1 | 2005 | 2005 | ||||||||
|
0.851 | 0.200 | 20 | 46014472 | missense variant | G/A;C | snv |
|
0.010 | < 0.001 | 1 | 2005 | 2005 |