| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
23 | 0.672 | 0.560 | 2 | 112779646 | missense variant | C/A | snv | 0.27 | 0.26 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
43 | 0.620 | 0.720 | 2 | 112785383 | upstream gene variant | G/A;C | snv | 0.32 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
52 | 0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
92 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
26 | 0.653 | 0.320 | 1 | 113761186 | upstream gene variant | C/A | snv | 6.7E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.760 | 0.857 | 7 | 2006 | 2019 | |||
|
13 | 0.732 | 0.400 | 1 | 113852067 | missense variant | C/T | snv | 1.7E-02 | 1.6E-02 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||
|
4 | 0.851 | 0.160 | 1 | 113891324 | intron variant | G/A | snv | 0.42 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.827 | 0.240 | 8 | 11484371 | upstream gene variant | T/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
22 | 0.683 | 0.480 | 8 | 11486464 | upstream gene variant | C/T | snv | 0.25 | 0.820 | 1.000 | 4 | 2010 | 2019 | ||||
|
18 | 0.695 | 0.520 | 8 | 11491677 | intron variant | G/A | snv | 0.25 | 0.020 | 1.000 | 2 | 2010 | 2011 | ||||
|
1 | 1.000 | 0.040 | X | 114998678 | intergenic variant | T/C | snv | 0.54 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 0.925 | 0.120 | 8 | 11502048 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.120 | 7 | 116542000 | intron variant | C/T | snv | 0.78 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.040 | 7 | 116560038 | 3 prime UTR variant | T/C | snv | 6.7E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | 1 | 116721168 | regulatory region variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | 1 | 116766208 | intron variant | T/A | snv | 0.17 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.040 | 11 | 118742965 | intron variant | T/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 11 | 118768644 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 3 | 119397303 | intron variant | G/A | snv | 0.15 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
14 | 0.763 | 0.240 | 11 | 1219991 | splice region variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 3 | 12218116 | intergenic variant | C/T | snv | 0.93 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
20 | 0.689 | 0.520 | 4 | 122588266 | regulatory region variant | G/T | snv | 0.10 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
11 | 0.752 | 0.520 | 4 | 122613898 | intron variant | C/T | snv | 0.35 | 0.010 | 1.000 | 1 | 2013 | 2013 |