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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.080 | 12 | 6390939 | 3 prime UTR variant | T/A;G | snv | 1.6E-04; 0.76 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
52 | 0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.020 | 1.000 | 2 | 2012 | 2013 | ||||
|
22 | 0.689 | 0.360 | 17 | 744946 | missense variant | G/A;C | snv | 0.63 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
10 | 0.763 | 0.480 | 17 | 42329511 | intron variant | G/A;C;T | snv | 2.8E-05; 0.59; 1.6E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
34 | 0.637 | 0.600 | 1 | 67168129 | missense variant | G/T | snv | 0.52 | 0.51 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
115 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
8 | 0.807 | 0.280 | 6 | 32220606 | missense variant | T/C | snv | 0.40 | 0.40 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
15 | 0.742 | 0.280 | 4 | 186083063 | missense variant | C/A;T | snv | 0.30 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
48 | 0.600 | 0.600 | 5 | 1293971 | synonymous variant | C/T | snv | 0.29 | 0.22 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
51 | 0.602 | 0.640 | 4 | 186082920 | missense variant | C/G;T | snv | 1.2E-04; 0.28 | 0.020 | 1.000 | 2 | 2013 | 2018 | ||||
|
88 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 0.030 | 1.000 | 3 | 2013 | 2015 | |||
|
3 | 0.882 | 0.160 | 19 | 39247938 | missense variant | G/A | snv | 0.25 | 8.1E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.200 | 6 | 33007157 | synonymous variant | G/A;C | snv | 0.20 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
10 | 0.776 | 0.480 | 6 | 31883457 | non coding transcript exon variant | A/G | snv | 0.18 | 0.20 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
23 | 0.695 | 0.240 | 11 | 320772 | splice region variant | A/G | snv | 0.13 | 0.13 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
5 | 0.851 | 0.160 | 6 | 31946402 | missense variant | C/G;T | snv | 4.1E-06; 0.12 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
27 | 0.653 | 0.600 | 15 | 81305928 | missense variant | T/G | snv | 9.6E-02 | 0.12 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
42 | 0.630 | 0.440 | 19 | 19268740 | missense variant | C/T | snv | 6.5E-02 | 5.8E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
27 | 0.662 | 0.440 | 6 | 137874929 | missense variant | T/C;G | snv | 4.0E-06; 5.4E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
1 | 1.000 | 0.080 | 3 | 112469762 | missense variant | T/G | snv | 2.4E-02 | 2.2E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 |