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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
70 | 0.581 | 0.520 | 7 | 55181378 | missense variant | C/T | snv | 2.8E-05 | 5.6E-05 | 0.100 | 1.000 | 20 | 2007 | 2020 | |||
|
48 | 0.623 | 0.280 | 7 | 55191846 | missense variant | A/T | snv | 0.090 | 1.000 | 9 | 2011 | 2019 | |||||
|
72 | 0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv | 0.040 | 1.000 | 4 | 2009 | 2017 | |||||
|
72 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 0.040 | 1.000 | 4 | 2009 | 2017 | |||||
|
73 | 0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv | 0.040 | 1.000 | 4 | 2009 | 2017 | |||||
|
15 | 0.776 | 0.080 | 7 | 55181398 | missense variant | T/A | snv | 0.020 | 1.000 | 2 | 2017 | 2019 | |||||
|
18 | 0.724 | 0.160 | 7 | 55191831 | missense variant | T/A;C;G | snv | 0.020 | 1.000 | 2 | 2014 | 2017 | |||||
|
6 | 0.851 | 0.120 | 7 | 55181370 | missense variant | G/A;C | snv | 0.52; 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.160 | 7 | 55183900 | intron variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.925 | 0.120 | 7 | 55155928 | missense variant | G/A | snv | 1.6E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
4 | 7 | 55172999 | missense variant | A/C;G | snv | 4.0E-05 | 2.4E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 7 | 55205613 | missense variant | C/T | snv | 3.1E-04 | 3.3E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 7 | 55205514 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 7 | 55160230 | missense variant | T/A;G | snv | 1.6E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
8 | 0.827 | 0.120 | 7 | 55200384 | stop gained | C/G;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.040 | 7 | 55174033 | missense variant | C/T | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 7 | 55198779 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 7 | 55201782 | splice region variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 |