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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 0.776 | 0.120 | 7 | 87591570 | intron variant | A/G | snv | 0.50 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 19 | 5257800 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
10 | 0.790 | 0.320 | 1 | 206766559 | upstream gene variant | G/A | snv | 0.11 | 0.840 | 0.889 | 9 | 2008 | 2017 | ||||
|
16 | 0.732 | 0.280 | 3 | 49684099 | missense variant | G/A | snv | 0.26 | 0.27 | 0.820 | 1.000 | 7 | 2008 | 2017 | |||
|
105 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 0.050 | 1.000 | 5 | 2008 | 2014 | ||||
|
6 | 0.827 | 0.040 | 16 | 50710812 | missense variant | G/A;T | snv | 4.0E-06; 4.0E-06 | 0.040 | 0.750 | 4 | 2008 | 2019 | ||||
|
19 | 0.689 | 0.600 | 1 | 67215986 | intron variant | T/G | snv | 0.37 | 0.730 | 1.000 | 4 | 2008 | 2016 | ||||
|
59 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 0.040 | 0.750 | 4 | 2008 | 2015 | ||||
|
87 | 0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 | 0.030 | 0.667 | 3 | 2008 | 2013 | |||
|
5 | 0.827 | 0.200 | 6 | 32463370 | intron variant | A/G;T | snv | 0.810 | 1.000 | 3 | 2008 | 2018 | |||||
|
5 | 0.827 | 0.120 | 9 | 136369439 | intron variant | C/G | snv | 0.38 | 0.710 | 1.000 | 2 | 2008 | 2016 | ||||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.020 | 1.000 | 2 | 2008 | 2012 | |||
|
29 | 0.653 | 0.480 | 19 | 48234449 | missense variant | A/T | snv | 0.33 | 0.29 | 0.020 | 1.000 | 2 | 2008 | 2011 | |||
|
2 | 0.925 | 0.040 | 3 | 49828959 | 3 prime UTR variant | C/A;T | snv | 0.48 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.882 | 0.080 | 10 | 23376509 | intergenic variant | G/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 16 | 50697279 | synonymous variant | G/A | snv | 1.2E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 0.040 | 1 | 24917063 | intron variant | C/T | snv | 0.12 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.925 | 0.040 | 22 | 28795944 | intron variant | A/G | snv | 4.6E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.925 | 0.040 | 1 | 67182950 | missense variant | A/G | snv | 1.6E-05 | 2.1E-05 | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||
|
13 | 0.742 | 0.400 | 12 | 6341779 | synonymous variant | T/C | snv | 0.37 | 0.40 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
20 | 0.701 | 0.480 | 2 | 102454108 | downstream gene variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
46 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 0.850 | 1.000 | 9 | 2009 | 2018 | ||||
|
6 | 0.827 | 0.120 | 1 | 19845367 | TF binding site variant | G/A | snv | 0.52 | 0.810 | 1.000 | 9 | 2009 | 2017 | ||||
|
7 | 0.827 | 0.120 | 13 | 26957130 | regulatory region variant | T/C | snv | 0.16 | 0.820 | 1.000 | 8 | 2009 | 2017 | ||||
|
6 | 0.827 | 0.080 | 19 | 17192965 | missense variant | T/A;G | snv | 1.3E-05; 0.52 | 0.060 | 0.833 | 6 | 2009 | 2016 |