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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 0.790 | 0.200 | X | 154536002 | missense variant | C/T | snv | 9.1E-03 | 3.6E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 1.000 | 0.040 | X | 96302380 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.925 | 0.080 | X | 129653796 | intron variant | T/C | snv | 0.31 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.120 | X | 129648435 | intron variant | C/G | snv | 0.26 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
40 | 0.637 | 0.600 | 22 | 46198429 | missense variant | G/C;T | snv | 4.0E-06; 4.0E-06 | 0.070 | 0.571 | 7 | 2001 | 2012 | ||||
|
88 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 0.040 | 1.000 | 4 | 2013 | 2018 | |||
|
35 | 0.641 | 0.640 | 22 | 46218377 | missense variant | C/G | snv | 4.3E-02 | 4.2E-02 | 0.030 | 0.667 | 3 | 2005 | 2007 | |||
|
9 | 0.807 | 0.160 | 22 | 36299201 | intron variant | G/T | snv | 0.78 | 0.020 | 0.500 | 2 | 2011 | 2012 | ||||
|
3 | 1.000 | 0.040 | 22 | 36281936 | 3 prime UTR variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 1.000 | 0.040 | 22 | 46233582 | intron variant | A/G | snv | 0.21 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 1.000 | 0.040 | 22 | 46234737 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 1.000 | 0.040 | 22 | 36316427 | intron variant | A/G | snv | 0.90 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.882 | 0.120 | 22 | 36265996 | inframe deletion | TTATAA/- | delins | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.040 | 22 | 39968202 | missense variant | A/G | snv | 6.8E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
4 | 0.882 | 0.080 | 22 | 40405776 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 1.000 | 0.040 | 21 | 43992991 | downstream gene variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
9 | 0.807 | 0.240 | 21 | 42416077 | intron variant | G/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.040 | 21 | 34426752 | upstream gene variant | T/C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1.000 | 0.040 | 21 | 43753698 | missense variant | C/A;G | snv | 4.0E-06; 2.8E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.851 | 0.040 | 21 | 15417030 | intron variant | C/T | snv | 0.31 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 21 | 43748998 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
7 | 0.851 | 0.120 | 21 | 41463567 | downstream gene variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.925 | 0.120 | 21 | 36135203 | missense variant | G/A;C | snv | 0.44 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
5 | 0.851 | 0.080 | 20 | 44413714 | missense variant | C/G;T | snv | 4.0E-06; 8.0E-05 | 0.020 | 1.000 | 2 | 2016 | 2019 |