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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
19 | 0.742 | 0.280 | 16 | 55697923 | synonymous variant | G/A;C | snv | 0.31; 4.0E-06 | 0.080 | 1.000 | 8 | 2006 | 2013 | ||||
|
7 | 0.851 | 0.240 | 13 | 32354921 | frameshift variant | CT/- | delins | 2.8E-05 | 0.700 | 1.000 | 6 | 2005 | 2013 | ||||
|
9 | 0.807 | 0.120 | 5 | 1403013 | missense variant | G/A | snv | 5.3E-04 | 5.8E-04 | 0.050 | 1.000 | 5 | 2005 | 2018 | |||
|
23 | 0.732 | 0.160 | 6 | 77462543 | synonymous variant | C/G | snv | 0.31 | 0.27 | 0.050 | 1.000 | 5 | 2003 | 2018 | |||
|
15 | 0.732 | 0.320 | 5 | 223509 | stop gained | C/T | snv | 2.0E-04 | 2.4E-04 | 0.700 | 1.000 | 4 | 2010 | 2017 | |||
|
32 | 0.672 | 0.560 | 3 | 69964940 | missense variant | G/A | snv | 1.4E-03 | 1.6E-03 | 0.700 | 1.000 | 4 | 2011 | 2016 | |||
|
10 | 0.790 | 0.120 | 20 | 10306436 | 3 prime UTR variant | G/T | snv | 0.68 | 0.040 | 1.000 | 4 | 2007 | 2018 | ||||
|
41 | 0.627 | 0.640 | 21 | 45537880 | missense variant | T/C;G | snv | 0.55; 4.4E-06 | 0.030 | 1.000 | 3 | 2014 | 2018 | ||||
|
7 | 0.807 | 0.280 | 15 | 89326678 | frameshift variant | A/- | delins | 0.700 | 1.000 | 3 | 2010 | 2017 | |||||
|
56 | 0.620 | 0.400 | 11 | 113400106 | missense variant | G/A | snv | 0.26 | 0.26 | 0.030 | 1.000 | 3 | 2010 | 2018 | |||
|
7 | 0.827 | 0.040 | 12 | 79430071 | intron variant | A/G;T | snv | 0.030 | 1.000 | 3 | 2017 | 2019 | |||||
|
2 | 1.000 | 0.040 | 16 | 55661194 | intron variant | C/T | snv | 8.6E-02 | 0.030 | 1.000 | 3 | 2008 | 2018 | ||||
|
3 | 0.882 | 0.080 | 5 | 1431049 | intron variant | G/C | snv | 0.31 | 0.030 | 1.000 | 3 | 2007 | 2014 | ||||
|
1 | 1.000 | 0.040 | 3 | 20683524 | intron variant | C/A | snv | 0.27 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||
|
82 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 0.030 | 1.000 | 3 | 2000 | 2005 | |||
|
4 | 0.882 | 0.040 | 4 | 61873823 | intron variant | G/A | snv | 0.59 | 0.030 | 1.000 | 3 | 2015 | 2019 | ||||
|
5 | 0.827 | 0.040 | 12 | 71938373 | upstream gene variant | T/A | snv | 0.12 | 0.020 | 1.000 | 2 | 2005 | 2009 | ||||
|
9 | 0.776 | 0.160 | 10 | 102900247 | intron variant | A/G | snv | 7.9E-02 | 0.810 | 1.000 | 2 | 2013 | 2015 | ||||
|
1 | 1.000 | 0.040 | 16 | 55692146 | intron variant | C/T | snv | 5.3E-03 | 0.020 | 1.000 | 2 | 2008 | 2008 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2011 | 2012 | |||
|
1 | 1.000 | 0.040 | 10 | 126084807 | intron variant | A/G | snv | 0.61 | 0.700 | 1.000 | 2 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | X | 7256158 | intron variant | G/A | snv | 7.1E-02 | 0.020 | 1.000 | 2 | 2008 | 2011 | ||||
|
3 | 0.925 | 0.040 | 9 | 90646879 | upstream gene variant | T/A;G | snv | 0.020 | 1.000 | 2 | 2011 | 2016 | |||||
|
2 | 0.925 | 0.040 | 5 | 43054645 | intron variant | A/G | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||
|
1 | 1.000 | 0.040 | 16 | 55697663 | intron variant | G/T | snv | 0.29 | 0.020 | 1.000 | 2 | 2015 | 2019 |