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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
32 | 0.641 | 0.520 | 10 | 100975021 | mature miRNA variant | C/G | snv | 0.27 | 0.27 | 0.020 | 1.000 | 2 | 2013 | 2015 | |||
|
3 | 0.925 | 0.160 | 10 | 102392994 | upstream gene variant | G/A | snv | 0.13 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
56 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 0.020 | 1.000 | 2 | 2015 | 2019 | |||||
|
48 | 0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 13 | 102849670 | intron variant | T/G | snv | 0.22 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.925 | 0.200 | 4 | 103216633 | intergenic variant | C/T | snv | 0.44 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
104 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 0.040 | 1.000 | 4 | 2007 | 2016 | |||
|
4 | 0.851 | 0.160 | 6 | 10439735 | mature miRNA variant | T/C | snv | 0.30 | 0.20 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
13 | 0.742 | 0.480 | 14 | 104773557 | synonymous variant | C/T | snv | 0.30 | 0.23 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
28 | 0.677 | 0.440 | 4 | 105140377 | intron variant | C/A | snv | 0.50 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
39 | 0.627 | 0.400 | 11 | 108304735 | missense variant | G/A | snv | 0.11 | 0.11 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
5 | 0.827 | 0.280 | 2 | 111039881 | intron variant | A/G | snv | 0.15 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
25 | 0.695 | 0.280 | 11 | 111300984 | intron variant | C/A | snv | 0.71 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
60 | 0.574 | 0.680 | 11 | 111511840 | intron variant | T/C | snv | 0.32 | 0.020 | 1.000 | 2 | 2013 | 2014 | ||||
|
116 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.120 | 10 | 11255346 | intron variant | T/C | snv | 0.47 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
26 | 0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
19 | 0.716 | 0.320 | 7 | 116554174 | intron variant | T/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.200 | 12 | 116564853 | intron variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
18 | 0.716 | 0.240 | 8 | 116618444 | intergenic variant | A/C | snv | 9.3E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
10 | 0.776 | 0.240 | 11 | 118606652 | 5 prime UTR variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
6 | 0.807 | 0.280 | 3 | 120096110 | non coding transcript exon variant | T/A | snv | 0.14 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
9 | 0.827 | 0.160 | 1 | 121538815 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2010 | 2010 |