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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.807 | 0.160 | 9 | 114804160 | intron variant | A/G | snv | 0.75 | 0.030 | 0.667 | 3 | 2011 | 2019 | ||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.020 | 1.000 | 2 | 2017 | 2019 | ||||
|
108 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 0.020 | 0.500 | 2 | 2013 | 2019 | ||||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.020 | 1.000 | 2 | 2019 | 2019 | ||||
|
10 | 0.752 | 0.320 | 1 | 67236843 | intron variant | T/G | snv | 4.4E-02 | 5.4E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
5 | 0.851 | 0.160 | 6 | 32447303 | downstream gene variant | G/A | snv | 0.20 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.763 | 0.200 | 9 | 114796423 | intron variant | C/T | snv | 0.73 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 6 | 32611931 | intergenic variant | T/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.827 | 0.160 | 3 | 38613773 | missense variant | G/A | snv | 1.2E-05 | 8.4E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
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 | |||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.030 | 1.000 | 3 | 2011 | 2017 | |||
|
2 | 1.000 | 0.040 | 2 | 219232579 | missense variant | G/A;C | snv | 3.2E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 5 | 148483142 | 3 prime UTR variant | A/G | snv | 2.1E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
42 | 0.623 | 0.520 | X | 114731326 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 0.851 | 0.200 | 17 | 45792776 | intron variant | C/T | snv | 0.43 | 0.030 | 1.000 | 3 | 2012 | 2016 | ||||
|
3 | 0.882 | 0.080 | 17 | 45808001 | intron variant | G/T | snv | 0.44 | 0.020 | 1.000 | 2 | 2012 | 2016 | ||||
|
2 | 1.000 | 0.040 | 5 | 76975028 | intron variant | C/A | snv | 0.26 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
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 | 0.080 | 7 | 30654644 | intron variant | C/T | snv | 0.48 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.851 | 0.080 | 7 | 30654159 | intron variant | C/T | snv | 0.67 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
39 | 0.633 | 0.600 | 3 | 122284910 | missense variant | G/T | snv | 0.13 | 0.11 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
106 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 0.040 | 0.250 | 4 | 2008 | 2014 | |||
|
48 | 0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 | 0.020 | 0.500 | 2 | 2011 | 2014 | |||
|
1 | 1.000 | 0.040 | 1 | 22068132 | intron variant | A/G | snv | 5.3E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 |