| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.160 | 3 | 189886413 | missense variant | T/A;C | snv | 4.0E-06; 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.641 | 0.440 | 17 | 7674888 | missense variant | T/C;G | snv |
|
0.010 | < 0.001 | 1 | 2007 | 2007 | |||||||||
|
0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.790 | 0.280 | 3 | 10142086 | missense variant | G/A;T | snv |
|
0.010 | < 0.001 | 1 | 2008 | 2008 | |||||||||
|
0.724 | 0.240 | 18 | 48927559 | intron variant | C/T | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.807 | 0.240 | 4 | 106924637 | missense variant | C/A;T | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.581 | 0.680 | 16 | 27363079 | missense variant | A/G | snv | 0.25 | 0.36 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.851 | 0.240 | 7 | 37907562 | missense variant | G/T | snv | 0.44 | 0.45 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.120 | 7 | 37907501 | missense variant | C/T | snv | 0.20 | 0.24 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.120 | 11 | 11968352 | intron variant | T/C | snv | 0.83 | 0.85 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.120 | 6 | 39854343 | intron variant | A/G | snv | 0.61 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.120 | 9 | 134443675 | downstream gene variant | G/A | snv | 0.75 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.827 | 0.160 | 11 | 11964514 | missense variant | T/C | snv | 0.78 | 0.78 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.120 | 6 | 39832238 | intron variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.925 | 0.120 | 11 | 11967604 | intron variant | C/G | snv | 0.84 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.120 | 9 | 134442243 | downstream gene variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.602 | 0.680 | 11 | 112164265 | intron variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.602 | 0.760 | 11 | 112164735 | intron variant | T/G | snv | 0.60 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.630 | 0.360 | 4 | 109912954 | 5 prime UTR variant | A/G | snv | 0.51 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.752 | 0.400 | 2 | 135851076 | intron variant | G/A;C | snv |
|
0.010 | < 0.001 | 1 | 2010 | 2010 | |||||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.020 | 0.500 | 2 | 2007 | 2011 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.020 | 0.500 | 2 | 2007 | 2011 | |||||||||
|
0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 |
|
0.020 | 0.500 | 2 | 2007 | 2011 | ||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.020 | 0.500 | 2 | 2007 | 2011 | |||||||||
|
1.000 | 0.120 | 2 | 46298957 | intron variant | T/C | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2011 | 2011 |