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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
24 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 0.800 | 1.000 | 1 | 2008 | 2015 | ||||
|
13 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.860 | 0.800 | 2 | 2005 | 2016 | |||
|
13 | 0.763 | 0.240 | 2 | 27519736 | intron variant | T/C | snv | 0.68 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
10 | 0.827 | 0.320 | 11 | 61790331 | non coding transcript exon variant | T/C | snv | 0.47 | 0.810 | 1.000 | 1 | 2010 | 2018 | ||||
|
9 | 0.742 | 0.400 | 6 | 32602623 | intergenic variant | T/C | snv | 0.27 | 0.710 | 1.000 | 1 | 2013 | 2016 | ||||
|
9 | 0.724 | 0.360 | 6 | 32711222 | upstream gene variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
8 | 0.742 | 0.440 | 18 | 12809341 | intron variant | A/G | snv | 0.12 | 0.850 | 1.000 | 3 | 2008 | 2016 | ||||
|
8 | 0.807 | 0.240 | 6 | 32619077 | intergenic variant | G/A | snv | 0.86 | 0.820 | 1.000 | 2 | 2011 | 2015 | ||||
|
7 | 0.827 | 0.200 | 2 | 60959694 | intron variant | A/G | snv | 0.50 | 0.800 | 1.000 | 2 | 2008 | 2012 | ||||
|
7 | 0.752 | 0.360 | 17 | 39884510 | intergenic variant | G/A;T | snv | 0.820 | 1.000 | 2 | 2008 | 2016 | |||||
|
7 | 0.790 | 0.400 | 6 | 32601914 | intergenic variant | G/A | snv | 0.27 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.763 | 0.480 | 18 | 12779948 | upstream gene variant | G/T | snv | 0.83 | 0.880 | 1.000 | 4 | 2007 | 2016 | ||||
|
6 | 0.732 | 0.280 | 3 | 49684099 | missense variant | G/A | snv | 0.26 | 0.27 | 0.830 | 1.000 | 2 | 2008 | 2017 | |||
|
6 | 0.653 | 0.320 | 1 | 113761186 | upstream gene variant | C/A | snv | 6.7E-02 | 0.800 | 1.000 | 2 | 2008 | 2015 | ||||
|
6 | 0.790 | 0.320 | 1 | 206766559 | upstream gene variant | G/A | snv | 0.11 | 0.850 | 0.875 | 1 | 2008 | 2017 | ||||
|
6 | 0.752 | 0.360 | 6 | 32609603 | intergenic variant | A/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.763 | 0.400 | 6 | 31306603 | intron variant | T/C | snv | 0.34 | 0.800 | 1.000 | 1 | 2012 | 2015 | ||||
|
6 | 0.807 | 0.280 | 6 | 32697951 | intergenic variant | A/G | snv | 0.16 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 0.900 | 0.944 | 8 | 2006 | 2020 | |||
|
5 | 0.763 | 0.280 | 9 | 4981602 | upstream gene variant | C/A;T | snv | 0.850 | 1.000 | 2 | 2008 | 2016 | |||||
|
5 | 0.827 | 0.240 | 6 | 32713500 | upstream gene variant | A/G | snv | 0.42 | 0.700 | 1.000 | 2 | 2008 | 2013 | ||||
|
5 | 0.807 | 0.320 | 6 | 32408694 | upstream gene variant | A/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
5 | 0.742 | 0.320 | 11 | 76590272 | upstream gene variant | C/T | snv | 0.35 | 0.810 | 1.000 | 1 | 2008 | 2011 | ||||
|
4 | 0.827 | 0.240 | 6 | 159069404 | intron variant | C/G;T | snv | 0.810 | 1.000 | 3 | 2010 | 2017 | |||||
|
4 | 0.807 | 0.280 | 13 | 43883789 | missense variant | A/G | snv | 0.28 | 0.27 | 0.810 | 1.000 | 3 | 2008 | 2017 |