| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.882 | 0.160 | 20 | 4699534 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 0.925 | 0.120 | 20 | 4699785 | missense variant | G/A | snv | 2.8E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.120 | 20 | 4699935 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
3 | 0.882 | 0.120 | 1 | 33096833 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
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 | |||
|
3 | 0.882 | 0.120 | 19 | 34379521 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
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 | ||||
|
1 | 1.000 | 0.120 | 8 | 79315213 | downstream gene variant | G/A;T | snv | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 0.925 | 0.160 | 1 | 47035911 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 1 | 240799770 | intron variant | A/G | snv | 4.1E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.882 | 0.120 | 20 | 4699732 | missense variant | A/G | snv | 3.8E-03 | 1.6E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
23 | 0.683 | 0.440 | 20 | 4699605 | missense variant | A/G | snv | 0.31 | 0.33 | 0.900 | 1.000 | 14 | 1996 | 2015 | |||
|
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 | |||
|
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 | |||
|
4 | 0.882 | 0.160 | 20 | 4699380 | inframe insertion | TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC/-;TCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 20 | 4702649 | downstream gene variant | T/C | snv | 0.17 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.160 | 20 | 4725072 | missense variant | C/G;T | snv | 4.1E-06; 0.46 | 0.52 | 0.010 | < 0.001 | 1 | 2004 | 2004 | |||
|
25 | 0.695 | 0.320 | 20 | 4699818 | missense variant | G/A | snv | 4.0E-06 | 0.900 | 1.000 | 44 | 1990 | 2019 | ||||
|
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 | 20 | 4724718 | missense variant | C/A;T | snv | 8.0E-06; 8.1E-03 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
3 | 0.925 | 0.160 | 17 | 80182758 | missense variant | T/C | snv | 8.0E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
5 | 0.851 | 0.200 | 17 | 80195302 | missense variant | G/A | snv | 2.4E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.120 | 5 | 41506758 | intron variant | T/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.925 | 0.160 | 20 | 4699851 | missense variant | G/C | snv | 0.830 | 1.000 | 13 | 1990 | 2010 | |||||
|
1 | 1.000 | 0.120 | 20 | 4724628 | missense variant | C/A;T | snv | 2.4E-05; 2.0E-02 | 0.010 | 1.000 | 1 | 2004 | 2004 |