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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.882 | 0.040 | 17 | 7673821 | frameshift variant | -/TCCCA | delins | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
5 | 0.882 | 0.040 | 8 | 105437494 | intron variant | -/TTTTCT | delins | 0.43 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
21 | 0.701 | 0.360 | 20 | 63678486 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.050 | 1.000 | 5 | 2012 | 2019 | ||||
|
2 | 0.925 | 0.040 | 1 | 237833787 | 3 prime UTR variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
58 | 0.581 | 0.680 | 16 | 27363079 | missense variant | A/G | snv | 0.25 | 0.36 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.882 | 0.080 | 20 | 63659655 | intron variant | A/G | snv | 0.82 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
96 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.040 | 0.750 | 4 | 2014 | 2018 | ||||
|
6 | 0.807 | 0.200 | 3 | 188885218 | 3 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
10 | 0.790 | 0.120 | 17 | 7673772 | missense variant | C/G;T | snv | 4.0E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
42 | 0.614 | 0.280 | 15 | 90087472 | missense variant | C/T | snv | 2.0E-03 | 1.6E-03 | 0.020 | 0.500 | 2 | 2015 | 2018 | |||
|
2 | 0.925 | 0.040 | 1 | 237833954 | 3 prime UTR variant | C/T | snv | 0.17 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.050 | 1.000 | 5 | 2012 | 2019 | |||||
|
2 | 0.925 | 0.040 | 2 | 208239914 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
39 | 0.627 | 0.400 | 11 | 108304735 | missense variant | G/A | snv | 0.11 | 0.11 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
5 | 0.827 | 0.080 | 4 | 61996533 | intron variant | G/A | snv | 0.26 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.040 | 5 | 160472115 | intron variant | G/A | snv | 0.17 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
3 | 0.882 | 0.120 | 19 | 10113872 | missense variant | G/A | snv | 0.16 | 0.13 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
18 | 0.716 | 0.360 | 17 | 7673821 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
3 | 0.882 | 0.040 | 11 | 96266936 | intron variant | G/A | snv | 0.37 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.040 | 10 | 113151107 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
104 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 0.925 | 0.040 | 18 | 55279598 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2002 | 2002 |