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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 17 | 37513222 | 3 prime UTR variant | T/C | snv | 9.9E-02 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 4 | 54727488 | missense variant | A/G | snv | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 6 | 32854492 | intron variant | A/C | snv | 0.43 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
5 | 0.882 | 0.080 | 13 | 32337326 | missense variant | A/G | snv | 5.4E-02 | 4.5E-02 | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||
|
7 | 0.807 | 0.120 | 12 | 47861787 | intron variant | G/A | snv | 0.26 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 6 | 32883073 | upstream gene variant | A/G | snv | 0.36 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
78 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
1 | 0.925 | 0.040 | 22 | 38201371 | non coding transcript exon variant | G/T | snv | 0.52 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
5 | 0.827 | 0.200 | 13 | 77901095 | missense variant | C/T | snv | 1.0E-02 | 1.1E-02 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||
|
6 | 0.851 | 0.080 | 22 | 40409261 | missense variant | T/A | snv | 4.1E-06 | 0.010 | < 0.001 | 1 | 2005 | 2005 | ||||
|
3 | 0.882 | 0.200 | 13 | 32337325 | frameshift variant | AACAAATGGGCAG/- | delins | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||||
|
35 | 0.630 | 0.360 | 4 | 109912954 | 5 prime UTR variant | A/G | snv | 0.51 | 0.020 | 0.500 | 2 | 2013 | 2015 | ||||
|
103 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 0.020 | 0.500 | 2 | 2010 | 2016 | |||
|
1 | 0.827 | 0.200 | 12 | 57751647 | missense variant | C/A;T | snv | 0.740 | 0.600 | 4 | 2003 | 2014 | |||||
|
22 | 0.683 | 0.320 | 9 | 21970917 | missense variant | C/A;G;T | snv | 2.1E-02 | 0.060 | 0.667 | 6 | 2002 | 2011 | ||||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.030 | 0.667 | 3 | 2006 | 2016 | |||
|
3 | 0.851 | 0.200 | 9 | 21974686 | missense variant | G/A;T | snv | 0.030 | 0.667 | 3 | 2006 | 2008 | |||||
|
2 | 0.882 | 0.160 | 20 | 34583968 | intron variant | G/A;C | snv | 0.810 | 0.667 | 1 | 2008 | 2017 | |||||
|
15 | 0.732 | 0.280 | 16 | 89919746 | missense variant | G/A | snv | 0.15 | 8.3E-02 | 0.070 | 0.714 | 7 | 2001 | 2019 | |||
|
10 | 0.763 | 0.280 | 16 | 89919532 | missense variant | G/A;C | snv | 7.8E-02; 4.0E-06 | 0.040 | 0.750 | 4 | 2001 | 2013 | ||||
|
8 | 0.807 | 0.160 | 14 | 61740897 | missense variant | T/A | snv | 4.0E-06 | 0.040 | 0.750 | 4 | 2007 | 2020 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.100 | 0.833 | 12 | 2006 | 2019 | ||||
|
6 | 0.776 | 0.200 | 5 | 33951588 | missense variant | C/A;G | snv | 0.65 | 0.750 | 0.833 | 5 | 2008 | 2017 | ||||
|
6 | 0.790 | 0.280 | 16 | 89920138 | missense variant | G/A;C | snv | 4.0E-06; 9.1E-03 | 0.070 | 0.857 | 7 | 2001 | 2018 | ||||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.080 | 0.875 | 8 | 2005 | 2018 |