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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
54 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 0.020 | 1.000 | 2 | 2009 | 2011 | ||||
|
29 | 0.683 | 0.440 | 10 | 114045297 | missense variant | G/C | snv | 0.74 | 0.69 | 0.020 | 1.000 | 2 | 2011 | 2013 | |||
|
7 | 0.807 | 0.120 | 5 | 35037010 | missense variant | C/T | snv | 0.21 | 0.25 | 0.020 | 1.000 | 2 | 2016 | 2017 | |||
|
63 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
6 | 0.807 | 0.080 | 1 | 162066689 | upstream gene variant | G/A | snv | 8.6E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.040 | 4 | 147485727 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
21 | 0.695 | 0.400 | 5 | 148827322 | missense variant | C/T | snv | 9.1E-03 | 9.1E-03 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
15 | 0.763 | 0.240 | 11 | 66560624 | stop gained | C/T | snv | 0.37 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.827 | 0.040 | 1 | 150150942 | missense variant | C/G;T | snv | 1.1E-02; 1.6E-05 | 4.4E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
131 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
9 | 0.776 | 0.200 | 19 | 582927 | 3 prime UTR variant | T/A | snv | 0.39 | 0.010 | 1.000 | 1 | 2017 | 2017 |