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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
43 | 0.620 | 0.720 | 2 | 112785383 | upstream gene variant | G/A;C | snv | 0.32 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
52 | 0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
47 | 0.605 | 0.760 | 2 | 112836810 | 5 prime UTR variant | G/A | snv | 0.56 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
92 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 0.020 | 1.000 | 2 | 2018 | 2018 | ||||
|
26 | 0.742 | 0.360 | 11 | 119081189 | missense variant | T/G | snv | 1.2E-04 | 5.6E-05 | 0.700 | 0 | ||||||
|
23 | 0.752 | 0.240 | 19 | 13262771 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
8 | 0.790 | 0.160 | 19 | 13277122 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
7 | 0.827 | 0.120 | 19 | 13298768 | frameshift variant | A/- | del | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
6 | 0.827 | 0.200 | 19 | 13371683 | splice region variant | C/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.882 | 0.120 | 9 | 137163846 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
9 | 0.776 | 0.280 | 5 | 1411242 | splice donor variant | C/T | snv | 6.4E-06 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
10 | 0.776 | 0.080 | 5 | 162093965 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.851 | 0.080 | 5 | 162097839 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
14 | 0.742 | 0.240 | 5 | 162101274 | synonymous variant | C/T | snv | 0.28 | 0.31 | 0.050 | 0.800 | 5 | 2012 | 2018 | |||
|
2 | 0.925 | 0.080 | 5 | 162108749 | intron variant | C/T | snv | 0.54 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 5 | 162149412 | 3 prime UTR variant | C/A | snv | 0.30 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.080 | 2 | 165292743 | intron variant | C/T | snv | 0.23 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
7 | 0.827 | 0.120 | 2 | 165295879 | splice acceptor variant | G/A | snv | 8.4E-02 | 6.2E-02 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
4 | 0.882 | 0.120 | 2 | 165308751 | missense variant | C/T | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
2 | 0.925 | 0.080 | 2 | 165344371 | intron variant | A/G | snv | 0.20 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 2 | 165378122 | intron variant | C/T | snv | 0.42 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 2 | 165991477 | missense variant | C/A;T | snv | 2.0E-05; 8.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.080 | 2 | 166036051 | frameshift variant | TT/- | delins | 0.700 | 0 | ||||||||
|
11 | 0.807 | 0.160 | 2 | 166036149 | frameshift variant | -/G | delins | 0.700 | 0 |