| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.120 | 2 | 100807869 | intergenic variant | G/A | snv | 0.15 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.160 | 11 | 117293108 | synonymous variant | C/G | snv | 0.49 | 0.46 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 0.925 | 0.160 | 5 | 132074925 | missense variant | C/G;T | snv | 8.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.851 | 0.160 | 3 | 141619799 | downstream gene variant | G/A | snv | 0.38 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 8 | 17348068 | intron variant | T/G | snv | 0.19 | 0.800 | 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 | ||||
|
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 | ||||
|
1 | 1.000 | 0.120 | 1 | 240799770 | intron variant | A/G | snv | 4.1E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.120 | 7 | 30922174 | frameshift variant | G/- | delins | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.882 | 0.120 | 1 | 33096833 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.120 | 19 | 34378959 | missense variant | C/A;T | snv | 4.0E-06; 5.2E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.882 | 0.120 | 19 | 34379521 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
28 | 0.662 | 0.480 | 6 | 41161514 | missense variant | C/A;T | snv | 6.8E-05; 2.6E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 5 | 41505587 | intron variant | T/A;C | snv | 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 | ||||
|
4 | 0.851 | 0.280 | 19 | 44908681 | missense variant | G/A;C | snv | 2.3E-05 | 1.4E-05 | 0.020 | 1.000 | 2 | 2006 | 2006 | |||
|
2 | 0.925 | 0.120 | 17 | 45983474 | missense variant | G/A | snv | 8.2E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.120 | 17 | 45996620 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1.000 | 0.120 | 20 | 4696446 | intron variant | G/A | snv | 0.23 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.882 | 0.160 | 20 | 4699380 | inframe insertion | TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC/-;TCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC | delins | 0.700 | 0 | ||||||||
|
32 | 0.683 | 0.320 | 20 | 4699525 | missense variant | C/T | snv | 0.040 | 1.000 | 4 | 1995 | 2013 | |||||
|
8 | 0.882 | 0.160 | 20 | 4699534 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
7 | 0.882 | 0.200 | 20 | 4699570 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
23 | 0.683 | 0.440 | 20 | 4699605 | missense variant | A/G | snv | 0.31 | 0.33 | 0.900 | 1.000 | 14 | 1996 | 2015 | |||
|
1 | 1.000 | 0.120 | 20 | 4699663 | missense variant | G/A | snv | 3.2E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 |