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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.080 | 16 | 1218376 | missense variant | G/A;T | snv | 5.5E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.851 | 0.120 | 21 | 31659806 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
3 | 0.925 | 0.080 | 19 | 56027610 | missense variant | G/C | snv | 0.13 | 9.7E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
60 | 0.570 | 0.480 | 3 | 14145949 | missense variant | G/T | snv | 0.63 | 0.65 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
15 | 0.776 | 0.080 | 7 | 55181398 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1.000 | 16 | 82081670 | intron variant | T/A | snv | 9.0E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
73 | 0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv | 0.040 | 1.000 | 4 | 2011 | 2019 | |||||
|
4 | 0.882 | 0.080 | 6 | 152102770 | 3 prime UTR variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
8 | 0.851 | 0.080 | X | 67723707 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
21 | 0.695 | 0.280 | 13 | 102846025 | 5 prime UTR variant | T/C | snv | 0.38 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.080 | 7 | 6026819 | missense variant | T/C | snv | 9.0E-02 | 5.5E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
2 | 1.000 | 7 | 140800366 | missense variant | T/C | snv | 8.0E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
13 | 0.742 | 0.240 | 20 | 4699915 | missense variant | T/G | snv | 6.0E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
72 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 0.040 | 1.000 | 4 | 2011 | 2019 |