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 | 0.200 | 3 | 37007004 | missense variant | G/C | snv | 2.1E-04 | 1.9E-04 |
|
0.720 | 1.000 | 2 | 1996 | 2008 | |||||||
|
0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins |
|
0.100 | 0.853 | 34 | 1997 | 2017 | |||||||||
|
0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 |
|
0.800 | 0.861 | 34 | 1997 | 2017 | |||||||
|
0.716 | 0.200 | 3 | 37025749 | missense variant | T/A | snv | 2.7E-03 | 7.5E-04 |
|
0.020 | 0.500 | 2 | 1998 | 2015 | |||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.100 | 0.829 | 70 | 1999 | 2018 | |||||||
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.800 | 0.923 | 13 | 1999 | 2020 | ||||||||
|
0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 |
|
0.050 | 0.600 | 5 | 1999 | 2013 | |||||||
|
0.925 | 0.160 | 5 | 87268486 | missense variant | G/A | snv |
|
0.020 | 0.500 | 2 | 1999 | 2019 | |||||||||
|
0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv |
|
0.010 | < 0.001 | 1 | 1999 | 1999 | |||||||||
|
0.807 | 0.480 | 2 | 47800616 | missense variant | T/C;G | snv | 5.1E-03 |
|
0.710 | 1.000 | 1 | 1999 | 2012 | ||||||||
|
0.633 | 0.440 | 11 | 534287 | missense variant | GC/AG;AT;TA;TT | mnv |
|
0.010 | < 0.001 | 1 | 1999 | 1999 | |||||||||
|
0.732 | 0.200 | 5 | 112839543 | missense variant | G/C | snv | 4.4E-03 | 5.6E-03 |
|
0.100 | 0.909 | 11 | 2000 | 2016 | |||||||
|
0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | |||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.100 | 0.806 | 31 | 2002 | 2019 | |||||||||
|
0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 |
|
0.100 | 0.882 | 17 | 2002 | 2019 | |||||||
|
0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 |
|
0.800 | 1.000 | 13 | 2002 | 2019 | |||||||
|
0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 |
|
0.800 | 0.941 | 13 | 2002 | 2019 | |||||||
|
0.790 | 0.160 | 3 | 37014530 | missense variant | T/C | snv | 2.0E-05 |
|
0.050 | 1.000 | 5 | 2002 | 2008 | ||||||||
|
0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 |
|
0.040 | 0.750 | 4 | 2002 | 2017 | |||||||
|
0.658 | 0.440 | 16 | 28606193 | missense variant | C/T | snv | 0.22 | 0.30 |
|
0.030 | 0.667 | 3 | 2002 | 2011 | |||||||
|
0.807 | 0.120 | 5 | 112827177 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.030 | 1.000 | 3 | 2002 | 2005 | |||||||
|
0.658 | 0.440 | 16 | 28606193 | missense variant | C/T | snv |
|
0.030 | 0.667 | 3 | 2002 | 2011 | |||||||||
|
0.645 | 0.280 | 17 | 39723335 | missense variant | A/G;T | snv | 0.20 |
|
0.020 | 0.500 | 2 | 2002 | 2019 | ||||||||
|
0.752 | 0.360 | 21 | 43058894 | missense variant | T/G | snv | 5.6E-06 |
|
0.010 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
1.000 | 0.080 | 15 | 29054561 | missense variant | T/C | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2002 | 2002 |