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 | 18 | 22200698 | missense variant | C/G | snv | 2.5E-04 | 1.7E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 8 | 11756964 | missense variant | G/A | snv | 2.4E-05 | 7.0E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | X | 15578920 | intron variant | A/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
106 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
44 | 0.620 | 0.520 | 9 | 22124478 | intron variant | A/G | snv | 0.40 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
26 | 0.695 | 0.520 | 9 | 22098575 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
32 | 0.695 | 0.480 | 16 | 16163078 | stop gained | G/A | snv | 1.4E-03 | 1.2E-03 | 0.700 | 0 | ||||||
|
16 | 0.732 | 0.280 | 9 | 133635393 | upstream gene variant | T/C | snv | 0.80 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
17 | 0.742 | 0.400 | 13 | 46073959 | missense variant | C/T | snv | 0.31 | 0.35 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
9 | 0.790 | 0.240 | 9 | 133639992 | splice region variant | A/G | snv | 0.45 | 0.54 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
13 | 0.790 | 0.240 | 16 | 16159555 | missense variant | C/T | snv | 2.8E-05 | 0.700 | 0 | |||||||
|
11 | 0.807 | 0.160 | 1 | 182112825 | intron variant | C/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
14 | 0.807 | 0.320 | 16 | 16163009 | stop gained | G/A | snv | 1.7E-04 | 1.2E-04 | 0.700 | 0 | ||||||
|
16 | 0.807 | 0.320 | 16 | 16190246 | missense variant | C/T | snv | 8.4E-05 | 1.1E-04 | 0.700 | 0 | ||||||
|
7 | 0.827 | 0.120 | 4 | 55125564 | 5 prime UTR variant | T/C | snv | 0.48 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
12 | 0.827 | 0.240 | 16 | 16190247 | stop gained | G/A;T | snv | 4.4E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
12 | 0.827 | 0.240 | 16 | 16173283 | splice donor variant | C/A | snv | 8.0E-06; 1.2E-04 | 1.7E-04 | 0.700 | 0 | ||||||
|
12 | 0.851 | 0.280 | 19 | 10279982 | intron variant | C/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
13 | 0.851 | 0.320 | 16 | 16154899 | missense variant | G/A;T | snv | 8.2E-05 | 0.700 | 0 | |||||||
|
11 | 0.851 | 0.200 | 16 | 16155010 | missense variant | C/T | snv | 4.8E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
13 | 0.851 | 0.320 | 16 | 16163110 | missense variant | G/A | snv | 6.8E-05 | 6.3E-05 | 0.700 | 0 | ||||||
|
11 | 0.851 | 0.280 | 16 | 16154974 | missense variant | G/A;T | snv | 1.9E-04; 5.4E-06 | 0.700 | 0 | |||||||
|
12 | 0.851 | 0.280 | 16 | 16202045 | stop gained | G/A | snv | 4.8E-05 | 1.8E-04 | 0.700 | 0 | ||||||
|
13 | 0.851 | 0.240 | 16 | 16202006 | missense variant | T/C | snv | 5.6E-03 | 4.7E-03 | 0.700 | 0 | ||||||
|
11 | 0.882 | 0.280 | 16 | 16163086 | missense variant | C/G;T | snv | 7.6E-05 | 0.700 | 0 |