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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 55491957 | upstream gene variant | T/A;G | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
0.807 | 0.200 | 6 | 88141462 | 3 prime UTR variant | T/C | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.200 | 3 | 89481208 | 3 prime UTR variant | C/T | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.752 | 0.280 | 6 | 88140381 | 3 prime UTR variant | T/C | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
2 | 19353152 | synonymous variant | C/A;T | snv | 1.6E-04; 5.5E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
0.763 | 0.320 | 21 | 45534541 | synonymous variant | C/T | snv | 1.6E-05 | 2.8E-05 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.100 | 1.000 | 14 | 1999 | 2019 | |||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.070 | 1.000 | 7 | 2004 | 2019 | |||||||||
|
0.614 | 0.640 | 14 | 64442127 | missense variant | G/A | snv | 0.44 | 0.38 |
|
0.030 | 1.000 | 3 | 2017 | 2018 | |||||||
|
0.851 | 0.080 | 2 | 157774114 | missense variant | C/G;T | snv |
|
0.020 | 1.000 | 2 | 2009 | 2020 | |||||||||
|
1.000 | 0.200 | 16 | 53873837 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 |
|
0.020 | 1.000 | 2 | 2016 | 2016 | |||||||
|
0.645 | 0.560 | 4 | 1805644 | missense variant | C/A;G;T | snv | 1.6E-05 |
|
0.020 | 1.000 | 2 | 2007 | 2017 | ||||||||
|
0.689 | 0.520 | 1 | 236803473 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.851 | 0.080 | 6 | 1610780 | missense variant | T/A;C | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.160 | 11 | 125900000 | missense variant | A/G | snv | 1.1E-03 | 1.0E-03 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.120 | 12 | 114385521 | missense variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 1999 | 1999 | |||||||||
|
0.925 | 0.120 | 12 | 114401830 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 1999 | 1999 | |||||||||
|
0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
6 | 31165217 | missense variant | C/T | snv | 4.1E-06 | 2.1E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.807 | 0.160 | 15 | 48444574 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.807 | 0.160 | 5 | 128349391 | missense variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1 | 161626229 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
0.851 | 0.240 | 3 | 57199901 | missense variant | C/G | snv | 2.8E-05 | 1.4E-05 |
|
0.010 | < 0.001 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.080 | 11 | 102955390 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||||
|
0.882 | 0.240 | 7 | 75983548 | missense variant | G/C | snv | 2.4E-04 | 2.2E-04 |
|
0.010 | 1.000 | 1 | 2016 | 2016 |