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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.100 | 0.865 | 89 | 1994 | 2019 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.862 | 29 | 1998 | 2019 | |||
|
35 | 0.637 | 0.440 | 1 | 230710231 | missense variant | G/A | snv | 0.12 | 0.11 | 0.100 | 0.727 | 22 | 1994 | 2019 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.060 | 0.833 | 6 | 2008 | 2015 | |||||
|
12 | 0.763 | 0.280 | 1 | 11847591 | missense variant | C/T | snv | 5.6E-02 | 5.3E-02 | 0.060 | 1.000 | 6 | 2007 | 2019 | |||
|
77 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 0.040 | 0.750 | 4 | 2012 | 2018 | |||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.040 | 1.000 | 4 | 2009 | 2018 | |||
|
16 | 0.752 | 0.120 | 1 | 192812042 | 3 prime UTR variant | C/G;T | snv | 0.040 | 1.000 | 4 | 2013 | 2018 | |||||
|
3 | 1.000 | 0.040 | 1 | 16052230 | missense variant | A/C;T | snv | 8.0E-06; 9.6E-02 | 0.030 | 0.667 | 3 | 2005 | 2009 | ||||
|
9 | 1.000 | 0.040 | 1 | 11802721 | intron variant | A/G | snv | 0.14 | 0.030 | 0.667 | 3 | 2011 | 2017 | ||||
|
12 | 0.763 | 0.240 | 1 | 11846011 | stop lost | A/G | snv | 0.14 | 0.21 | 0.030 | 1.000 | 3 | 2007 | 2011 | |||
|
13 | 0.776 | 0.160 | 1 | 11845917 | 3 prime UTR variant | A/G;T | snv | 0.030 | 1.000 | 3 | 2009 | 2017 | |||||
|
2 | 1.000 | 0.040 | 1 | 204156313 | synonymous variant | A/G | snv | 4.0E-06 | 0.030 | 1.000 | 3 | 1999 | 2003 | ||||
|
72 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 0.020 | 0.500 | 2 | 2008 | 2012 | |||
|
4 | 0.925 | 0.040 | 1 | 46932824 | missense variant | A/G | snv | 0.17 | 0.20 | 0.020 | 1.000 | 2 | 2014 | 2018 | |||
|
39 | 0.627 | 0.640 | 1 | 65570758 | missense variant | A/G | snv | 0.30 | 0.25 | 0.020 | 1.000 | 2 | 2012 | 2019 | |||
|
29 | 0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2000 | 2013 | |||||
|
3 | 0.925 | 0.080 | 1 | 230710026 | synonymous variant | G/A;C | snv | 1.2E-05 | 0.020 | 1.000 | 2 | 2000 | 2003 | ||||
|
93 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 0.020 | 1.000 | 2 | 2014 | 2019 | |||
|
4 | 0.925 | 0.040 | 1 | 11844019 | 3 prime UTR variant | T/C | snv | 0.32 | 0.020 | 1.000 | 2 | 2009 | 2011 | ||||
|
1 | 1 | 192810186 | missense variant | G/A | snv | 1.2E-04 | 7.0E-05 | 0.020 | 1.000 | 2 | 2005 | 2008 | |||||
|
5 | 1 | 230712956 | intron variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2011 | 2019 | |||||||
|
3 | 0.925 | 0.040 | 1 | 21259168 | intron variant | T/C | snv | 0.12 | 0.020 | 1.000 | 2 | 2007 | 2014 | ||||
|
4 | 1 | 230713613 | intron variant | T/C | snv | 0.57 | 0.020 | 1.000 | 2 | 2016 | 2019 | ||||||
|
4 | 1 | 112673921 | intron variant | A/C;G | snv | 0.810 | 1.000 | 2 | 2011 | 2013 |