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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
42 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.040 | 1.000 | 4 | 2000 | 2005 | |||
|
17 | 0.732 | 0.200 | 5 | 112839543 | missense variant | G/C | snv | 4.4E-03 | 5.6E-03 | 0.020 | 1.000 | 2 | 2002 | 2003 | |||
|
32 | 0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 | 0.020 | 0.500 | 2 | 2004 | 2006 | |||
|
31 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 0.020 | 0.500 | 2 | 2004 | 2006 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
4 | 0.851 | 0.120 | 9 | 98831947 | missense variant | G/A | snv | 1.2E-03 | 1.3E-03 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
52 | 0.597 | 0.560 | 13 | 102875652 | missense variant | G/C | snv | 0.28 | 0.30 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
72 | 0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
107 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
24 | 0.672 | 0.360 | 1 | 45331833 | missense variant | C/A;G | snv | 0.29 | 0.27 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
13 | 0.763 | 0.280 | 11 | 49156734 | missense variant | G/A | snv | 4.0E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
5 | 0.827 | 0.200 | 5 | 112827951 | missense variant | G/A;C | snv | 3.2E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
62 | 0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
13 | 0.763 | 0.280 | 11 | 49154384 | stop gained | G/A | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.807 | 0.120 | 5 | 112827177 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
5 | 0.827 | 0.120 | 5 | 112819214 | missense variant | G/C;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
11 | 0.776 | 0.160 | 6 | 8653014 | non coding transcript exon variant | A/C | snv | 0.44 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
40 | 0.623 | 0.680 | 21 | 43062358 | missense variant | G/A;T | snv | 8.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
36 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 0.040 | 1.000 | 4 | 2000 | 2005 |