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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 1.000 | 0.080 | 10 | 100315722 | intron variant | G/A | snv | 0.34 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1 | 100728649 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
9 | 1.000 | 0.040 | 11 | 100739815 | intron variant | T/C | snv | 0.78 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 10 | 100794914 | intron variant | C/T | snv | 0.91 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 0.882 | 0.040 | X | 100862805 | missense variant | G/A | snv | 5.9E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
31 | 0.649 | 0.600 | 7 | 101126430 | upstream gene variant | A/G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
35 | 0.633 | 0.560 | 7 | 101132046 | missense variant | C/T | snv | 4.0E-06 | 0.030 | 1.000 | 3 | 2014 | 2019 | ||||
|
1 | 15 | 101262752 | intergenic variant | C/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 15 | 101272152 | intron variant | T/C | snv | 0.25 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 15 | 101273134 | intron variant | C/G | snv | 0.19 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 1.000 | 0.080 | 15 | 101273712 | intron variant | C/T | snv | 0.62 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
18 | 0.724 | 0.280 | 12 | 10160849 | missense variant | C/G | snv | 0.11 | 0.13 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
1 | 8 | 101803258 | intron variant | C/A | snv | 0.63 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 4 | 102000547 | intron variant | T/A | snv | 4.1E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
6 | 19 | 10222312 | 3 prime UTR variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
49 | 0.608 | 0.720 | 14 | 102250837 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||
|
56 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
6 | 0.827 | 0.160 | 19 | 10274864 | missense variant | A/G;T | snv | 4.0E-06; 2.8E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
12 | 0.851 | 0.280 | 19 | 10279982 | intron variant | C/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
38 | 0.637 | 0.560 | 19 | 10284116 | missense variant | G/A | snv | 0.11 | 9.3E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
99 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 0.020 | 1.000 | 2 | 2004 | 2012 | |||
|
32 | 0.662 | 0.640 | 3 | 10289773 | missense variant | G/T | snv | 8.8E-02 | 7.1E-02 | 0.010 | < 0.001 | 1 | 2003 | 2003 | |||
|
8 | 0.807 | 0.160 | 8 | 10292057 | intron variant | A/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 4 | 102974066 | intron variant | A/G | snv | 0.57 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 11 | 103082247 | intron variant | A/G | snv | 0.32 | 0.700 | 1.000 | 1 | 2019 | 2019 |