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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.882 | 0.160 | 21 | 36146408 | missense variant | G/A | snv | 0.37 | 0.39 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
73 | 0.564 | 0.600 | 11 | 534289 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 9 | 2005 | 2009 | |||||
|
2 | 1.000 | 0.040 | 16 | 55478141 | intron variant | G/A;C | snv | 0.11 | 0.020 | 1.000 | 2 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.080 | 16 | 55478410 | intron variant | T/G | snv | 0.19 | 0.020 | 0.500 | 2 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.040 | 12 | 54581014 | missense variant | C/T | snv | 4.6E-03 | 1.9E-02 | 0.020 | 1.000 | 2 | 2008 | 2009 | |||
|
37 | 0.630 | 0.520 | 6 | 12296022 | missense variant | G/T | snv | 0.23 | 0.21 | 0.020 | 1.000 | 2 | 2008 | 2009 | |||
|
1 | 1.000 | 0.040 | 2 | 25168232 | intron variant | G/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
22 | 0.701 | 0.320 | 9 | 22096056 | intron variant | A/G | snv | 0.41 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
44 | 0.620 | 0.520 | 9 | 22124478 | intron variant | A/G | snv | 0.40 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
77 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
17 | 0.742 | 0.320 | 9 | 22115027 | intron variant | A/G | snv | 0.49 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
22 | 0.695 | 0.280 | 9 | 22115960 | intron variant | A/G | snv | 0.64 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
8 | 0.827 | 0.120 | 16 | 55477625 | intron variant | G/A | snv | 0.19 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 2 | 25170385 | upstream gene variant | C/T | snv | 0.22 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
6 | 0.827 | 0.080 | 14 | 23429807 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
25 | 0.701 | 0.360 | 11 | 17388025 | stop gained | T/A;C | snv | 0.64 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
33 | 0.649 | 0.560 | 7 | 128238730 | upstream gene variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
23 | 0.695 | 0.400 | 5 | 148827322 | missense variant | C/T | snv | 9.1E-03 | 9.1E-03 | 0.040 | 1.000 | 4 | 2001 | 2010 | |||
|
2 | 0.925 | 0.040 | 6 | 26092879 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
4 | 0.882 | 0.040 | 1 | 16016759 | intron variant | T/C | snv | 0.62 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
32 | 0.649 | 0.480 | 6 | 26090957 | missense variant | A/T | snv | 1.0E-02 | 1.0E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
17 | 0.732 | 0.240 | 21 | 34449523 | missense variant | T/C | snv | 0.64 | 2.0E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
4 | 0.851 | 0.160 | 2 | 219418809 | missense variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 0.882 | 0.080 | 6 | 7558186 | missense variant | A/G | snv | 6.4E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
5 | 0.851 | 0.240 | 1 | 156115102 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 |