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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.080 | 15 | 51002561 | stop gained | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 21 | 33426974 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
8 | 0.827 | 0.240 | 19 | 4236999 | missense variant | G/A | snv | 0.34 | 0.39 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
9 | 0.790 | 0.360 | 1 | 206771300 | intron variant | T/C | snv | 0.71 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
28 | 0.662 | 0.480 | 4 | 38798089 | missense variant | T/C | snv | 0.38 | 0.44 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
31 | 0.645 | 0.520 | 4 | 153704936 | missense variant | C/T | snv | 8.8E-05 | 9.8E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
31 | 0.653 | 0.600 | 2 | 218395009 | missense variant | G/A;C | snv | 4.9E-02; 4.1E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
35 | 0.658 | 0.520 | 1 | 155235843 | missense variant | T/C;G | snv | 2.3E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
50 | 0.590 | 0.760 | 12 | 68158742 | intron variant | T/A | snv | 0.36 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
98 | 0.525 | 0.800 | 4 | 153705165 | missense variant | G/A | snv | 1.7E-02 | 1.8E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
102 | 0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 |