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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
25 | 0.695 | 0.320 | 20 | 4699818 | missense variant | G/A | snv | 4.0E-06 | 0.900 | 1.000 | 44 | 1990 | 2019 | ||||
|
16 | 0.752 | 0.280 | 20 | 4699758 | missense variant | G/A | snv | 6.4E-05 | 4.2E-05 | 0.900 | 1.000 | 27 | 1990 | 2019 | |||
|
23 | 0.683 | 0.440 | 20 | 4699605 | missense variant | A/G | snv | 0.31 | 0.33 | 0.900 | 1.000 | 14 | 1996 | 2015 | |||
|
15 | 0.732 | 0.240 | 20 | 4699848 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 | 0.870 | 1.000 | 18 | 1990 | 2016 | |||
|
4 | 0.925 | 0.160 | 20 | 4699851 | missense variant | G/C | snv | 0.830 | 1.000 | 13 | 1990 | 2010 | |||||
|
10 | 0.790 | 0.200 | 20 | 4699752 | missense variant | G/A | snv | 0.800 | 0.955 | 22 | 1990 | 2015 | |||||
|
1 | 1.000 | 0.120 | 8 | 79315213 | downstream gene variant | G/A;T | snv | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.120 | 8 | 17348068 | intron variant | T/G | snv | 0.19 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.120 | 20 | 4696446 | intron variant | G/A | snv | 0.23 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 20 | 4717980 | upstream gene variant | G/T | snv | 7.0E-02 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 2 | 100807869 | intergenic variant | G/A | snv | 0.15 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
13 | 0.742 | 0.240 | 20 | 4699915 | missense variant | T/G | snv | 6.0E-05 | 2.1E-05 | 0.770 | 1.000 | 18 | 1990 | 2013 | |||
|
5 | 0.851 | 0.120 | 20 | 4699843 | missense variant | G/A | snv | 6.0E-05 | 3.5E-05 | 0.750 | 1.000 | 16 | 1990 | 2014 | |||
|
2 | 1.000 | 0.120 | 20 | 4699827 | missense variant | G/A | snv | 1.6E-05 | 2.8E-05 | 0.730 | 1.000 | 3 | 2000 | 2014 | |||
|
1 | 1.000 | 0.120 | 1 | 240799770 | intron variant | A/G | snv | 4.1E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 20 | 4702649 | downstream gene variant | T/C | snv | 0.17 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 5 | 41506758 | intron variant | T/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 20 | 4708828 | intergenic variant | G/A;T | snv | 7.1E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 5 | 41505587 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.882 | 0.160 | 17 | 1753779 | intron variant | T/C | snv | 0.71 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.882 | 0.160 | 20 | 4699380 | inframe insertion | TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC/-;TCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC | delins | 0.700 | 0 | ||||||||
|
11 | 0.776 | 0.200 | 20 | 4699875 | missense variant | G/A | snv | 8.0E-03 | 2.2E-03 | 0.070 | 1.000 | 7 | 1998 | 2015 | |||
|
11 | 0.827 | 0.240 | 1 | 183220922 | stop gained | G/A;T | snv | 8.0E-06; 4.0E-06 | 0.050 | 1.000 | 5 | 1997 | 2019 | ||||
|
32 | 0.683 | 0.320 | 20 | 4699525 | missense variant | C/T | snv | 0.040 | 1.000 | 4 | 1995 | 2013 | |||||
|
1 | 1.000 | 0.120 | 20 | 4699807 | missense variant | A/C | snv | 6.0E-05 | 2.8E-05 | 0.030 | 1.000 | 3 | 2014 | 2019 |