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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
21 | 0.689 | 0.440 | 2 | 31580636 | missense variant | G/A;C;T | snv | 0.66; 4.9E-06 | 0.050 | 1.000 | 5 | 2005 | 2017 | ||||
|
2 | 0.925 | 0.120 | X | 50492002 | intergenic variant | G/A | snv | 0.39 | 0.030 | 1.000 | 3 | 2011 | 2019 | ||||
|
2 | 0.925 | 0.120 | X | 50439186 | intron variant | G/A | snv | 0.46 | 0.720 | 1.000 | 2 | 2011 | 2015 | ||||
|
2 | 0.925 | 0.120 | 2 | 42788579 | missense variant | T/C | snv | 0.80 | 0.80 | 0.710 | 1.000 | 2 | 2014 | 2019 | |||
|
2 | 0.925 | 0.120 | X | 50460404 | intron variant | A/C | snv | 0.45 | 0.710 | 1.000 | 2 | 2014 | 2019 | ||||
|
4 | 0.851 | 0.200 | 10 | 102832492 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 | 0.020 | 1.000 | 2 | 2012 | 2019 | |||
|
3 | 0.882 | 0.160 | 15 | 80424141 | intron variant | G/A | snv | 0.27 | 0.020 | 1.000 | 2 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | 16 | 55307223 | intron variant | T/C | snv | 0.30 | 0.710 | 1.000 | 2 | 2014 | 2019 | ||||
|
7 | 0.790 | 0.200 | 2 | 31526224 | missense variant | C/T | snv | 2.3E-04 | 1.1E-04 | 0.020 | 1.000 | 2 | 2017 | 2019 | |||
|
3 | 0.882 | 0.160 | 15 | 80426396 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.120 | 7 | 27745330 | intron variant | G/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.827 | 0.160 | 11 | 32392031 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
88 | 0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
4 | 0.851 | 0.160 | 9 | 124493083 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.120 | 9 | 124500125 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.120 | 10 | 76935709 | intron variant | A/G | snv | 0.38 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 6 | 143568902 | intron variant | G/A | snv | 0.62 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | X | 50414986 | intron variant | A/G | snv | 0.39 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.807 | 0.200 | 9 | 124500523 | missense variant | C/A;G | snv | 4.3E-06; 0.10 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | 9 | 124500585 | synonymous variant | C/A;T | snv | 2.2E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.120 | 5 | 457146 | non coding transcript exon variant | C/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.160 | 19 | 38494564 | missense variant | C/T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.790 | 0.200 | 2 | 31529419 | missense variant | C/G;T | snv | 1.4E-04 | 1.5E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 0.925 | 0.120 | X | 50436751 | intron variant | C/T | snv | 0.30 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2016 | 2016 |