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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
17 | 0.701 | 0.480 | 6 | 43785475 | 3 prime UTR variant | A/G | snv | 0.59 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.851 | 0.160 | 22 | 20111808 | 3 prime UTR variant | G/A | snv | 0.21 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.827 | 0.080 | 12 | 72031544 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 0.925 | 0.080 | 12 | 71999134 | intron variant | G/A | snv | 0.29 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
8 | 0.807 | 0.200 | 12 | 71979082 | synonymous variant | A/C;G;T | snv | 4.0E-06; 0.56 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 0.120 | 12 | 71941600 | missense variant | C/A | snv | 2.1E-03 | 7.1E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
5 | 0.851 | 0.120 | 11 | 18040661 | synonymous variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
45 | 0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
33 | 0.633 | 0.760 | 1 | 12192898 | missense variant | T/G | snv | 0.22 | 0.22 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
6 | 0.827 | 0.120 | 5 | 88367793 | intron variant | C/T | snv | 0.21 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
8 | 0.807 | 0.160 | 12 | 56421497 | splice region variant | T/C | snv | 0.43 | 0.39 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
6 | 0.925 | 0.080 | 12 | 56420869 | missense variant | G/A;C | snv | 0.49; 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.925 | 0.080 | 12 | 56443632 | intron variant | C/T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
83 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
9 | 0.851 | 0.120 | 22 | 41381096 | intron variant | G/T | snv | 0.76 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.827 | 0.160 | 16 | 71576223 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 0.925 | 0.080 | 6 | 132571193 | missense variant | G/A | snv | 6.2E-02 | 7.8E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
9 | 0.790 | 0.200 | X | 47574321 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
131 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
9 | 0.790 | 0.120 | 17 | 2305605 | intron variant | G/T | snv | 0.54 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.925 | 0.080 | 12 | 20711408 | missense variant | C/A;T | snv | 3.4E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
72 | 0.581 | 0.520 | 17 | 30237328 | upstream gene variant | T/C | snv | 0.18 | 0.100 | 0.923 | 13 | 2008 | 2017 | ||||
|
5 | 0.851 | 0.160 | 17 | 30237152 | upstream gene variant | G/A | snv | 6.3E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 |