| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.574 | 0.680 | 11 | 111511840 | intron variant | T/C | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 |
|
0.050 | 1.000 | 5 | 2007 | 2010 | ||||||||
|
0.627 | 0.640 | 21 | 45537880 | missense variant | T/C;G | snv | 0.55; 4.4E-06 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.611 | 0.600 | 10 | 44372809 | 3 prime UTR variant | C/T | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.600 | 0.600 | 5 | 1293971 | synonymous variant | C/T | snv | 0.29 | 0.22 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.627 | 0.600 | 21 | 45531904 | missense variant | C/A;T | snv | 9.7E-06; 1.4E-05 |
|
0.010 | 1.000 | 1 | 2001 | 2001 | ||||||||
|
0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 |
|
0.020 | 1.000 | 2 | 2011 | 2014 | ||||||||
|
0.597 | 0.560 | 13 | 102875652 | missense variant | G/C | snv | 0.28 | 0.30 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.620 | 0.560 | 17 | 18328782 | missense variant | G/A | snv | 0.27 | 0.31 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||
|
0.672 | 0.560 | 5 | 132674018 | 5 prime UTR variant | C/T | snv | 0.28 | 0.28 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.605 | 0.520 | 21 | 31667299 | missense variant | G/A;C;T | snv | 1.2E-05; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.570 | 0.480 | 3 | 14145949 | missense variant | G/T | snv | 0.63 | 0.65 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.672 | 0.480 | 19 | 41006936 | missense variant | G/A;T | snv | 4.0E-06; 0.27 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||||
|
0.708 | 0.440 | 12 | 112450406 | missense variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.701 | 0.440 | 11 | 61792609 | 5 prime UTR variant | G/A | snv | 0.34 | 0.26 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | |||||||
|
0.716 | 0.440 | 8 | 18400344 | missense variant | T/C | snv | 0.38 | 0.39 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.633 | 0.440 | 11 | 534287 | missense variant | GC/AG;AT;TA;TT | mnv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.614 | 0.400 | 4 | 54733155 | missense variant | A/T | snv |
|
0.040 | 1.000 | 4 | 2007 | 2018 | |||||||||
|
0.605 | 0.400 | 4 | 54733167 | missense variant | A/G;T | snv |
|
0.040 | 1.000 | 4 | 2007 | 2018 | |||||||||
|
0.683 | 0.400 | 21 | 43104346 | missense variant | G/A;T | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.701 | 0.360 | 12 | 57751648 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.672 | 0.360 | 6 | 29944350 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2002 | 2002 |