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 | 0.040 | 5 | 175441837 | synonymous variant | T/A;C | snv | 0.99 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.040 | 5 | 141945684 | synonymous variant | T/C;G | snv | 0.98; 4.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 9 | 137161424 | splice region variant | G/A | snv | 0.94 | 0.95 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
4 | 0.851 | 0.280 | 22 | 18913491 | missense variant | C/T | snv | 0.93 | 2.8E-03 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.040 | 22 | 18913577 | 3 prime UTR variant | A/G | snv | 0.91 | 7.7E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
12 | 0.752 | 0.400 | 6 | 31810495 | missense variant | G/A;C;T | snv | 0.87 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 6 | 15593009 | intron variant | T/A;C | snv | 5.2E-06; 0.82 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 14 | 81278392 | missense variant | A/C;G | snv | 4.0E-06; 0.81 | 0.020 | 0.500 | 2 | 2011 | 2013 | ||||
|
19 | 0.708 | 0.400 | 6 | 46705206 | missense variant | A/G | snv | 0.81 | 0.79 | 0.020 | 1.000 | 2 | 1997 | 2002 | |||
|
1 | 1.000 | 0.040 | 15 | 41842325 | non coding transcript exon variant | C/G;T | snv | 0.80 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.040 | 22 | 18913237 | synonymous variant | G/A | snv | 0.78 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
11 | 0.742 | 0.200 | 22 | 43162920 | missense variant | A/G | snv | 0.76 | 0.75 | 0.010 | < 0.001 | 1 | 2000 | 2000 | |||
|
5 | 0.882 | 0.120 | 22 | 19971950 | missense variant | C/T | snv | 0.75 | 0.72 | 0.020 | 0.500 | 2 | 2005 | 2010 | |||
|
10 | 0.763 | 0.360 | 11 | 117998955 | missense variant | A/G | snv | 0.74 | 0.74 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
1 | 1.000 | 0.040 | 11 | 117293049 | splice region variant | C/A;T | snv | 0.74 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.040 | 15 | 55860531 | missense variant | T/C | snv | 0.74 | 0.72 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
6 | 0.925 | 0.040 | 14 | 100159565 | missense variant | C/T | snv | 0.73 | 0.76 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.040 | 6 | 32058330 | missense variant | C/A;G;T | snv | 0.72 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.882 | 0.160 | 17 | 4719343 | synonymous variant | C/T | snv | 0.71 | 0.62 | 0.020 | 0.500 | 2 | 2007 | 2008 | |||
|
6 | 0.827 | 0.240 | 9 | 104800523 | missense variant | T/C | snv | 0.71 | 0.60 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 0.925 | 0.040 | 12 | 79621127 | missense variant | A/C;T | snv | 0.10; 0.70 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
4 | 0.851 | 0.160 | 5 | 33998778 | missense variant | A/C;G | snv | 1.6E-05; 0.70 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.925 | 0.080 | 21 | 44261270 | splice region variant | T/C | snv | 0.70 | 0.75 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
4 | 0.851 | 0.160 | 5 | 33989413 | missense variant | C/T | snv | 0.70 | 0.74 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 1.000 | 0.040 | 17 | 39634118 | intron variant | G/A | snv | 0.69 | 0.60 | 0.020 | 0.500 | 2 | 2008 | 2008 |