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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
30 | 0.653 | 0.600 | 4 | 1806163 | missense variant | A/C;T | snv | 0.700 | 0 | ||||||||
|
45 | 0.630 | 0.680 | 4 | 1801837 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
31 | 0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 | 0.700 | 0 | |||||||
|
21 | 0.672 | 0.520 | 4 | 1804392 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
30 | 0.645 | 0.560 | 4 | 1805644 | missense variant | C/A;G;T | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
31 | 0.645 | 0.360 | 17 | 7674216 | missense variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
49 | 0.600 | 0.520 | 4 | 1801844 | missense variant | C/A;G;T | snv | 4.2E-06; 4.2E-06 | 0.700 | 0 | |||||||
|
32 | 0.637 | 0.440 | 10 | 88990206 | non coding transcript exon variant | A/G | snv | 0.54 | 0.020 | < 0.001 | 2 | 2014 | 2017 | ||||
|
3 | 0.882 | 0.080 | 19 | 6746039 | missense variant | C/G | snv | 0.010 | < 0.001 | 1 | 2002 | 2002 | |||||
|
3 | 0.882 | 0.080 | 12 | 130739483 | intergenic variant | T/C | snv | 0.97 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
6 | 0.807 | 0.120 | 6 | 52243264 | intron variant | G/A | snv | 0.75 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.080 | 17 | 69955727 | intergenic variant | C/G;T | snv | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||
|
30 | 0.649 | 0.280 | 10 | 88989499 | intron variant | G/A;T | snv | 0.15 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.080 | 6 | 31271730 | missense variant | G/C | snv | 0.010 | < 0.001 | 1 | 2002 | 2002 | |||||
|
8 | 0.776 | 0.120 | 20 | 33676869 | missense variant | C/T | snv | 1.9E-02; 5.1E-06 | 1.8E-02 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
18 | 0.716 | 0.320 | 5 | 1320607 | non coding transcript exon variant | C/T | snv | 0.33 | 0.38 | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||
|
62 | 0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
4 | 0.851 | 0.080 | 22 | 37665657 | missense variant | T/C | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.120 | 18 | 54294435 | missense variant | G/A | snv | 0.72 | 0.78 | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||
|
78 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 0.050 | 0.200 | 5 | 2012 | 2017 | ||||
|
3 | 0.882 | 0.080 | 17 | 61679808 | 3 prime UTR variant | T/A;C | snv | 0.020 | 0.500 | 2 | 2013 | 2016 | |||||
|
27 | 0.658 | 0.560 | 9 | 117715853 | 3 prime UTR variant | G/C | snv | 0.11 | 0.020 | 0.500 | 2 | 2017 | 2019 | ||||
|
22 | 0.689 | 0.400 | 6 | 36684194 | missense variant | C/A;T | snv | 0.15; 4.4E-05 | 0.020 | 0.500 | 2 | 2012 | 2016 | ||||
|
101 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 0.020 | 0.500 | 2 | 2011 | 2018 | |||
|
5 | 0.827 | 0.120 | 17 | 61863458 | 5 prime UTR variant | C/T | snv | 0.42 | 0.020 | 0.500 | 2 | 2016 | 2018 |