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 | 1.000 | 0.040 | 11 | 27673288 | intron variant | A/G | snv | 0.19 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 1.000 | 0.040 | 11 | 113413797 | intron variant | T/G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
5 | 0.882 | 0.080 | 5 | 37814000 | 3 prime UTR variant | T/C | snv | 0.22 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 1 | 15418527 | intron variant | A/C;G;T | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
3 | 1.000 | 0.040 | 16 | 1347814 | synonymous variant | C/T | snv | 0.44 | 0.39 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
4 | 1.000 | 0.040 | 6 | 95606712 | 3 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
52 | 0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
6 | 0.851 | 0.160 | 19 | 11111624 | missense variant | G/A | snv | 4.3E-02 | 8.4E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 17 | 49969496 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
7 | 0.851 | 0.120 | 7 | 87584585 | intron variant | C/T | snv | 0.39 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 8 | 38030595 | missense variant | A/G | snv | 9.2E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
9 | 0.925 | 0.120 | 18 | 63178651 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 0.925 | 0.080 | 8 | 38057134 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 1.000 | 0.040 | 10 | 101791382 | missense variant | G/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.882 | 0.080 | X | 151181399 | missense variant | A/G | snv | 0.45 | 0.45 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
31 | 0.708 | 0.320 | 6 | 35639794 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
7 | 0.807 | 0.200 | 8 | 20179202 | missense variant | A/G | snv | 0.71 | 0.78 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
4 | 0.882 | 0.120 | 17 | 63483037 | missense variant | A/G | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
10 | 0.827 | 0.120 | 11 | 2169802 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 0.882 | 0.080 | 7 | 23266401 | non coding transcript exon variant | T/C | snv | 0.54 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
36 | 0.658 | 0.560 | 7 | 24285260 | missense variant | T/A;C | snv | 4.0E-06; 3.0E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
27 | 0.677 | 0.280 | 22 | 19969258 | 3 prime UTR variant | G/A | snv | 0.56 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
37 | 0.653 | 0.360 | 15 | 78590583 | missense variant | G/A | snv | 0.26 | 0.24 | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||
|
3 | 1.000 | 0.040 | 4 | 46085716 | intron variant | A/C | snv | 0.14 | 0.010 | 1.000 | 1 | 2011 | 2011 |