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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.882 | 0.080 | 2 | 226155937 | TF binding site variant | A/G | snv | 0.36 | 0.820 | 1.000 | 6 | 2010 | 2018 | ||||
|
1 | 1.000 | 0.080 | 10 | 119389891 | intron variant | C/T | snv | 0.39 | 0.850 | 1.000 | 5 | 2013 | 2018 | ||||
|
1 | 1.000 | 0.080 | 11 | 44231853 | intron variant | G/C | snv | 0.24 | 0.050 | 0.400 | 5 | 2012 | 2015 | ||||
|
1 | 1.000 | 0.080 | 17 | 7285729 | missense variant | G/A;C | snv | 4.2E-03; 4.0E-06 | 0.700 | 1.000 | 5 | 1991 | 2013 | ||||
|
1 | 1.000 | 0.080 | 19 | 7120707 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.800 | 1.000 | 5 | 1992 | 2013 | |||
|
1 | 1.000 | 0.080 | 6 | 39316274 | missense variant | G/T | snv | 0.51 | 0.60 | 0.830 | 1.000 | 5 | 2011 | 2019 | |||
|
5 | 1.000 | 0.080 | 7 | 14858657 | intron variant | C/T | snv | 0.18 | 0.800 | 1.000 | 5 | 2012 | 2019 | ||||
|
3 | 0.925 | 0.080 | 9 | 8879118 | intron variant | C/T | snv | 0.14 | 0.820 | 1.000 | 5 | 2010 | 2016 | ||||
|
1 | 1.000 | 0.080 | 4 | 6301295 | missense variant | C/A;G;T | snv | 0.67 | 0.810 | 1.000 | 5 | 2010 | 2018 | ||||
|
1 | 1.000 | 0.080 | 5 | 77129124 | intron variant | G/A | snv | 0.74 | 0.800 | 1.000 | 5 | 2010 | 2017 | ||||
|
2 | 0.925 | 0.080 | X | 153634467 | regulatory region variant | A/G | snv | 0.25 | 0.810 | 1.000 | 5 | 2010 | 2014 | ||||
|
2 | 1.000 | 0.080 | 9 | 4287466 | intron variant | A/G | snv | 0.37 | 0.820 | 1.000 | 5 | 2011 | 2019 | ||||
|
4 | 0.925 | 0.080 | 15 | 62104190 | intergenic variant | A/G | snv | 0.51 | 0.800 | 1.000 | 5 | 2010 | 2017 | ||||
|
1 | 1.000 | 0.080 | 3 | 64062621 | intergenic variant | T/C | snv | 0.81 | 0.830 | 1.000 | 5 | 2011 | 2019 | ||||
|
3 | 1.000 | 0.080 | 10 | 113048313 | intron variant | T/C | snv | 0.54 | 0.720 | 1.000 | 4 | 2007 | 2015 | ||||
|
1 | 1.000 | 0.080 | 11 | 44234064 | intron variant | T/C | snv | 0.32 | 0.26 | 0.040 | 0.500 | 4 | 2012 | 2015 | |||
|
1 | 1.000 | 0.080 | 19 | 40237979 | missense variant | C/T | snv | 0.800 | 1.000 | 4 | 2004 | 2013 | |||||
|
3 | 0.925 | 0.080 | 9 | 128122474 | missense variant | C/A;T | snv | 4.0E-06; 0.13 | 0.040 | 1.000 | 4 | 2007 | 2009 | ||||
|
1 | 1.000 | 0.080 | 9 | 79337213 | intergenic variant | C/G;T | snv | 0.800 | 1.000 | 4 | 2010 | 2017 | |||||
|
1 | 1.000 | 0.080 | 3 | 23413299 | intron variant | A/G | snv | 0.26 | 0.800 | 1.000 | 4 | 2011 | 2019 | ||||
|
3 | 0.925 | 0.080 | 1 | 50444313 | intron variant | G/A | snv | 8.5E-02 | 0.820 | 1.000 | 4 | 2014 | 2017 | ||||
|
6 | 1.000 | 0.080 | 7 | 44189469 | intron variant | C/T | snv | 0.17 | 0.830 | 0.750 | 4 | 2008 | 2013 | ||||
|
4 | 1.000 | 0.080 | 7 | 15024684 | intergenic variant | G/T | snv | 0.54 | 0.810 | 1.000 | 4 | 2011 | 2017 | ||||
|
1 | 1.000 | 0.080 | 12 | 65818538 | intron variant | C/T | snv | 0.13 | 0.800 | 1.000 | 4 | 2012 | 2018 | ||||
|
10 | 1.000 | 0.080 | 16 | 81501185 | intron variant | T/A;C | snv | 0.710 | 1.000 | 4 | 2017 | 2018 |