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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.030 | 1.000 | 3 | 2008 | 2015 | |||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
12 | 0.742 | 0.320 | 9 | 114790605 | synonymous variant | T/C | snv | 0.71 | 0.75 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
4 | 0.851 | 0.160 | 1 | 207472977 | synonymous variant | G/A;T | snv | 0.34; 8.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
5 | 0.827 | 0.200 | 1 | 207473117 | missense variant | G/A | snv | 0.26 | 0.31 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
15 | 0.732 | 0.440 | 1 | 161674008 | missense variant | T/C | snv | 0.16 | 0.19 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
14 | 0.732 | 0.520 | 16 | 31265490 | missense variant | G/A | snv | 9.7E-02 | 0.11 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
87 | 0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
14 | 0.716 | 0.480 | 6 | 52237046 | missense variant | T/C | snv | 6.7E-02 | 6.1E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
10 | 0.752 | 0.440 | 6 | 31753256 | intron variant | G/A | snv | 6.4E-02 | 7.9E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
9 | 0.776 | 0.400 | 3 | 48466996 | missense variant | G/A;C | snv | 2.1E-04; 2.7E-04 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.851 | 0.160 | 3 | 48467569 | missense variant | A/G | snv | 1.2E-04 | 1.2E-04 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
102 | 0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
5 | 0.827 | 0.280 | 1 | 207454348 | 5 prime UTR variant | T/C | snv | 0.16 | 0.020 | 1.000 | 2 | 2007 | 2012 | ||||
|
13 | 0.742 | 0.280 | 7 | 128954129 | upstream gene variant | T/C | snv | 9.0E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.827 | 0.200 | 1 | 173266926 | regulatory region variant | A/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
27 | 0.672 | 0.520 | 1 | 159713301 | 3 prime UTR variant | G/A | snv | 0.26 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
12 | 0.732 | 0.480 | 2 | 191079016 | intron variant | C/T | snv | 0.21 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
46 | 0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.851 | 0.160 | 1 | 22637618 | start lost | T/G | snv | 7.0E-06 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
17 | 0.708 | 0.440 | 3 | 48466707 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
8 | 0.807 | 0.320 | 13 | 108285104 | intron variant | T/A | snv | 0.21 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
11 | 0.742 | 0.440 | 6 | 31951083 | non coding transcript exon variant | A/G | snv | 7.5E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.851 | 0.160 | 1 | 169691640 | 3 prime UTR variant | A/G | snv | 0.27 | 0.010 | 1.000 | 1 | 2005 | 2005 |