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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.120 | 2 | 199812203 | intron variant | A/C | snv | 0.64 | 0.830 | 1.000 | 3 | 2011 | 2015 | ||||
|
1 | 1.000 | 0.080 | 2 | 101052395 | intron variant | G/A | snv | 0.25 | 0.810 | 1.000 | 2 | 2010 | 2017 | ||||
|
1 | 1.000 | 0.080 | 2 | 234302083 | regulatory region variant | G/A | snv | 0.13 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 11 | 39306409 | intergenic variant | G/A | snv | 0.47 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.925 | 0.160 | 5 | 126582456 | intron variant | A/G | snv | 0.15 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 18 | 69475621 | intron variant | T/A | snv | 0.19 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 1.000 | 0.080 | 8 | 118965553 | intergenic variant | G/C | snv | 0.65 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 1 | 111649500 | non coding transcript exon variant | T/C | snv | 0.41 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 18 | 24358694 | intron variant | T/G | snv | 0.69 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 1.000 | 0.080 | 3 | 169253443 | intron variant | A/G;T | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 1.000 | 0.080 | 12 | 48981179 | missense variant | T/G | snv | 4.9E-05 | 7.0E-06 | 0.740 | 1.000 | 6 | 2013 | 2019 | |||
|
1 | 1.000 | 0.080 | 18 | 9848005 | intron variant | G/A | snv | 3.4E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 10 | 29570927 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 17 | 27280666 | non coding transcript exon variant | G/A | snv | 1.6E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.120 | 11 | 16368048 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 0.925 | 0.120 | 11 | 16381965 | intron variant | T/C | snv | 8.8E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.080 | 12 | 48981230 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
13 | 0.752 | 0.400 | 11 | 68433827 | missense variant | C/T | snv | 0.13 | 0.11 | 0.090 | 1.000 | 9 | 2005 | 2017 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.050 | 1.000 | 5 | 2003 | 2014 | |||
|
107 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 0.050 | 1.000 | 5 | 2000 | 2013 | ||||
|
78 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 0.040 | 1.000 | 4 | 2014 | 2018 | |||||
|
74 | 0.555 | 0.760 | 7 | 22726627 | non coding transcript exon variant | G/C | snv | 9.9E-02 | 0.040 | 1.000 | 4 | 2010 | 2019 | ||||
|
13 | 0.763 | 0.360 | 12 | 102481791 | upstream gene variant | A/C;G;T | snv | 0.040 | 1.000 | 4 | 2015 | 2018 | |||||
|
4 | 0.851 | 0.160 | 11 | 68406721 | missense variant | G/A;C | snv | 3.8E-02 | 0.040 | 0.750 | 4 | 2005 | 2019 | ||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.030 | 1.000 | 3 | 2009 | 2015 |