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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
88 | 0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 | 0.020 | 1.000 | 2 | 2007 | 2016 | |||
|
1 | 1.000 | 0.040 | 9 | 22115106 | intron variant | C/A | snv | 0.15 | 0.820 | 1.000 | 2 | 2010 | 2014 | ||||
|
72 | 0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 | 0.020 | 1.000 | 2 | 2010 | 2015 | ||||
|
27 | 0.653 | 0.600 | 15 | 81305928 | missense variant | T/G | snv | 9.6E-02 | 0.12 | 0.020 | 0.500 | 2 | 2010 | 2018 | |||
|
1 | 1.000 | 0.040 | 2 | 11581409 | intron variant | T/A;G | snv | 0.710 | 0.500 | 2 | 2017 | 2019 | |||||
|
17 | 0.724 | 0.480 | 22 | 19963746 | missense variant | G/C | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2014 | 2018 | ||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.020 | 1.000 | 2 | 2016 | 2020 | |||
|
73 | 0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 | 0.020 | 0.500 | 2 | 2009 | 2016 | |||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.020 | 1.000 | 2 | 2008 | 2009 | ||||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.020 | 1.000 | 2 | 2004 | 2010 | |||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.020 | 1.000 | 2 | 2004 | 2010 | |||||
|
18 | 0.724 | 0.480 | X | 49260888 | intron variant | G/A | snv | 9.6E-02 | 0.020 | 1.000 | 2 | 2011 | 2012 | ||||
|
16 | 0.716 | 0.400 | 15 | 81285798 | missense variant | C/T | snv | 0.17 | 0.11 | 0.020 | 0.500 | 2 | 2016 | 2018 | |||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.020 | 1.000 | 2 | 2011 | 2019 | |||
|
35 | 0.641 | 0.600 | 14 | 64233098 | 3 prime UTR variant | C/T | snv | 0.31 | 0.33 | 0.020 | 0.500 | 2 | 2008 | 2014 | |||
|
29 | 0.662 | 0.320 | 12 | 25207290 | 3 prime UTR variant | A/C | snv | 6.2E-02 | 0.020 | 0.500 | 2 | 2012 | 2019 | ||||
|
1 | 1.000 | 0.040 | 2 | 112771606 | downstream gene variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 6 | 19803537 | non coding transcript exon variant | C/T | snv | 0.47 | 0.800 | 1.000 | 2 | 2012 | 2013 | ||||
|
67 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 0.020 | 0.500 | 2 | 2013 | 2020 | |||||
|
11 | 0.752 | 0.280 | 15 | 51215771 | missense variant | G/A | snv | 7.6E-02 | 8.0E-02 | 0.020 | 1.000 | 2 | 2005 | 2012 | |||
|
24 | 0.672 | 0.360 | 10 | 102837395 | 5 prime UTR variant | A/G;T | snv | 0.40; 8.1E-06 | 0.020 | 0.500 | 2 | 2013 | 2018 | ||||
|
13 | 0.752 | 0.560 | 1 | 157701026 | upstream gene variant | A/G | snv | 0.57 | 0.020 | 1.000 | 2 | 2012 | 2013 | ||||
|
9 | 0.763 | 0.400 | 2 | 191105394 | intron variant | C/G | snv | 0.77 | 0.020 | 1.000 | 2 | 2016 | 2019 | ||||
|
1 | 1.000 | 0.040 | 6 | 19785357 | intron variant | C/G;T | snv | 0.810 | 1.000 | 2 | 2012 | 2015 | |||||
|
1 | 1.000 | 0.040 | 14 | 63133372 | intron variant | T/A;C | snv | 0.710 | < 0.001 | 1 | 2017 | 2017 |