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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.790 | 0.280 | 5 | 132656717 | intron variant | A/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
7 | 0.807 | 0.160 | 9 | 114804160 | intron variant | A/G | snv | 0.75 | 0.030 | 0.667 | 3 | 2011 | 2019 | ||||
|
108 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 0.020 | 0.500 | 2 | 2013 | 2019 | ||||
|
1 | 1.000 | 0.040 | 1 | 22068132 | intron variant | A/G | snv | 5.3E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.040 | 5 | 148483142 | 3 prime UTR variant | A/G | snv | 2.1E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
37 | 0.627 | 0.600 | 2 | 233274722 | missense variant | A/G | snv | 0.45 | 0.44 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
2 | 0.925 | 0.120 | 3 | 38562500 | missense variant | A/G | snv | 6.5E-04 | 4.7E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
31 | 0.658 | 0.440 | 3 | 52226766 | intron variant | A/G | snv | 0.20 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 4 | 123130312 | intron variant | A/G | snv | 1.2E-02 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 5 | 149966412 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
48 | 0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 | 0.020 | 0.500 | 2 | 2011 | 2014 | |||
|
2 | 1.000 | 0.040 | 5 | 76975028 | intron variant | C/A | snv | 0.26 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 11 | 18046616 | upstream gene variant | C/A | snv | 0.40 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.020 | 1.000 | 2 | 2017 | 2019 | ||||
|
42 | 0.623 | 0.520 | X | 114731326 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
106 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 0.040 | 0.250 | 4 | 2008 | 2014 | |||
|
5 | 0.851 | 0.200 | 17 | 45792776 | intron variant | C/T | snv | 0.43 | 0.030 | 1.000 | 3 | 2012 | 2016 | ||||
|
2 | 1.000 | 0.040 | 6 | 88149832 | intron variant | C/T | snv | 0.21 | 0.020 | 1.000 | 2 | 2011 | 2013 | ||||
|
3 | 0.882 | 0.120 | 2 | 218261086 | 5 prime UTR variant | C/T | snv | 0.44 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
12 | 0.742 | 0.400 | 13 | 48045719 | missense variant | C/T | snv | 2.8E-02 | 1.1E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 0.925 | 0.120 | 3 | 38609776 | missense variant | C/T | snv | 2.4E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
5 | 0.851 | 0.200 | 17 | 19649164 | intron variant | C/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
15 | 0.716 | 0.400 | 12 | 68157629 | intron variant | C/T | snv | 0.75 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
15 | 0.724 | 0.440 | 16 | 3254463 | missense variant | C/T | snv | 0.24 | 0.21 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
4 | 0.882 | 0.200 | 13 | 95163161 | missense variant | C/T | snv | 2.3E-02 | 1.2E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 |