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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 2 | 127050470 | missense variant | T/C | snv | 9.2E-03 | 8.2E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
11 | 0.790 | 0.320 | 2 | 25343038 | upstream gene variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.080 | 2 | 233159830 | intron variant | C/T | snv | 0.35 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 2 | 10338810 | intron variant | A/G | snv | 0.47 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 2 | 127069056 | intron variant | A/G | snv | 0.30 | 0.33 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.080 | 2 | 127059060 | missense variant | G/A | snv | 4.1E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.080 | 2 | 127132061 | intergenic variant | G/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 2 | 127057558 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.040 | 0.750 | 4 | 2011 | 2017 | |||||
|
1 | 1.000 | 0.080 | 3 | 153652877 | intron variant | G/A | snv | 0.12 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
52 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
68 | 0.572 | 0.680 | 3 | 46357717 | missense variant | G/A | snv | 0.13 | 0.12 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||
|
4 | 0.925 | 0.120 | 3 | 186727263 | missense variant | T/G | snv | 0.12 | 9.3E-02 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
37 | 0.637 | 0.560 | 3 | 186841685 | upstream gene variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
20 | 0.701 | 0.320 | 3 | 120094435 | upstream gene variant | A/G | snv | 0.51 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
48 | 0.620 | 0.720 | 3 | 39265671 | missense variant | G/A | snv | 0.14 | 0.12 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
38 | 0.637 | 0.680 | 3 | 39265765 | missense variant | C/T | snv | 0.22 | 0.22 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.080 | 3 | 155183416 | 3 prime UTR variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1.000 | 0.080 | 3 | 52472410 | intron variant | C/T | snv | 0.96 | 0.96 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
4 | 0.925 | 0.120 | 3 | 186742138 | missense variant | T/C | snv | 0.42 | 0.44 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.080 | 4 | 95170280 | missense variant | G/A | snv | 2.9E-04 | 2.6E-04 | 0.020 | 1.000 | 2 | 2014 | 2016 | |||
|
10 | 0.790 | 0.120 | 5 | 168418786 | intron variant | C/T | snv | 0.43 | 0.020 | 0.500 | 2 | 2011 | 2017 | ||||
|
2 | 0.925 | 0.080 | 5 | 88927603 | intron variant | G/A | snv | 0.72 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.280 | 5 | 68292320 | missense variant | G/A | snv | 0.18 | 0.22 | 0.010 | 1.000 | 1 | 2002 | 2002 |