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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.040 | 13 | 28028244 | missense variant | T/G | snv | 0.710 | 1.000 | 1 | 2006 | 2006 | |||||
|
3 | 0.882 | 0.120 | 13 | 28018504 | missense variant | T/A;G | snv | 0.700 | 1.000 | 17 | 2001 | 2014 | |||||
|
1 | 1.000 | 0.040 | 13 | 28018502 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 9 | 2005 | 2013 | |||||
|
25 | 0.683 | 0.440 | 1 | 114716127 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 7 | 1987 | 2016 | |||||
|
1 | 1.000 | 0.040 | 11 | 32396363 | frameshift variant | -/ACCGTACA | ins | 0.700 | 1.000 | 6 | 2014 | 2014 | |||||
|
27 | 0.672 | 0.400 | 12 | 25227341 | missense variant | T/A;G | snv | 4.0E-06 | 0.700 | 1.000 | 6 | 1987 | 2016 | ||||
|
32 | 0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 5 | 1987 | 2012 | |||||
|
13 | 0.752 | 0.160 | 15 | 90088605 | missense variant | C/G | snv | 0.700 | 1.000 | 4 | 2011 | 2014 | |||||
|
44 | 0.611 | 0.520 | 17 | 7673803 | missense variant | G/A;C;T | snv | 1.2E-05 | 0.700 | 1.000 | 4 | 2014 | 2016 | ||||
|
78 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.700 | 1.000 | 4 | 2014 | 2016 | ||||
|
24 | 0.683 | 0.400 | 21 | 43104346 | missense variant | G/A;T | snv | 8.0E-06 | 0.700 | 1.000 | 4 | 2011 | 2016 | ||||
|
9 | 0.776 | 0.400 | 12 | 25245284 | missense variant | G/A;C | snv | 0.700 | 1.000 | 3 | 2006 | 2014 | |||||
|
23 | 0.716 | 0.280 | 17 | 7675094 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 3 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.040 | 21 | 34880579 | missense variant | C/A;G | snv | 0.700 | 1.000 | 3 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.040 | 13 | 28018484 | missense variant | A/G | snv | 0.700 | 1.000 | 3 | 2012 | 2014 | |||||
|
1 | 1.000 | 0.040 | 13 | 28027236 | missense variant | T/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 2012 | 2014 | ||||
|
1 | 1.000 | 0.040 | 13 | 28028205 | missense variant | T/C | snv | 0.700 | 1.000 | 3 | 2012 | 2014 | |||||
|
1 | 1.000 | 0.040 | 13 | 28028279 | missense variant | T/C | snv | 0.700 | 1.000 | 3 | 2012 | 2014 | |||||
|
1 | 1.000 | 0.040 | 13 | 28033974 | missense variant | C/A | snv | 0.700 | 1.000 | 3 | 2012 | 2014 | |||||
|
34 | 0.645 | 0.360 | 17 | 7674872 | missense variant | T/C;G | snv | 8.0E-06 | 0.700 | 1.000 | 3 | 2014 | 2014 | ||||
|
23 | 0.677 | 0.280 | 17 | 7674217 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 3 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.080 | 4 | 54733154 | missense variant | GA/AT | mnv | 0.700 | 1.000 | 2 | 2009 | 2013 | |||||
|
1 | 1.000 | 0.040 | 21 | 34880580 | missense variant | C/T | snv | 0.700 | 1.000 | 2 | 2009 | 2014 | |||||
|
9 | 0.763 | 0.120 | 1 | 64846664 | missense variant | C/A | snv | 0.700 | 1.000 | 2 | 2011 | 2011 | |||||
|
26 | 0.677 | 0.440 | 1 | 114716123 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 2 | 2009 | 2016 |