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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.120 | 11 | 101035002 | 3 prime UTR variant | A/T | snv | 0.27 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
5 | 0.851 | 0.120 | 11 | 101042001 | missense variant | C/A | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
12 | 0.742 | 0.240 | 11 | 101062681 | missense variant | C/A;G | snv | 0.13; 4.0E-06 | 0.030 | 1.000 | 3 | 2001 | 2015 | ||||
|
5 | 0.827 | 0.160 | 11 | 101128367 | missense variant | G/A;C | snv | 6.1E-05; 4.3E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
19 | 0.708 | 0.520 | 19 | 10156401 | synonymous variant | T/A;C | snv | 0.52 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.120 | 19 | 10174102 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.120 | 5 | 102301953 | upstream gene variant | -/AAA;AAAAAA | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
56 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.851 | 0.160 | 4 | 102542171 | intron variant | C/G | snv | 0.59 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
9 | 0.790 | 0.240 | 4 | 102597148 | intron variant | A/G | snv | 0.31 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
48 | 0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
99 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
104 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 0.020 | 0.500 | 2 | 2014 | 2014 | |||
|
17 | 0.708 | 0.280 | 11 | 103745837 | intron variant | A/G | snv | 5.4E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
17 | 0.708 | 0.280 | 11 | 103813371 | intron variant | A/G | snv | 7.2E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.827 | 0.160 | 9 | 104094409 | 5 prime UTR variant | -/GC | ins | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
28 | 0.677 | 0.560 | 10 | 104263031 | missense variant | C/A | snv | 0.25 | 0.23 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
11 | 0.752 | 0.320 | 10 | 104274733 | 5 prime UTR variant | A/G | snv | 0.22 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
25 | 0.672 | 0.560 | 10 | 104279427 | missense variant | A/G;T | snv | 0.35 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.120 | 13 | 104807897 | intergenic variant | A/G | snv | 0.31 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
28 | 0.677 | 0.440 | 4 | 105140377 | intron variant | C/A | snv | 0.50 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.120 | 11 | 108267302 | frameshift variant | TAGTGATGCAAAC/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.320 | 11 | 108272782 | stop gained | G/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
3 | 0.925 | 0.320 | 11 | 108284281 | frameshift variant | G/- | delins | 4.2E-05 | 0.700 | 0 | |||||||
|
39 | 0.627 | 0.400 | 11 | 108304735 | missense variant | G/A | snv | 0.11 | 0.11 | 0.010 | 1.000 | 1 | 2015 | 2015 |