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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
60 | 0.689 | 0.400 | 6 | 42978878 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.240 | 3 | 142568059 | splice region variant | T/C | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.240 | 3 | 142507967 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
9 | 0.882 | 0.160 | 15 | 48460299 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 3 | 52149850 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.160 | 10 | 68416703 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.160 | 2 | 46623765 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.160 | 2 | 46619676 | frameshift variant | -/GG | delins | 0.700 | 0 | ||||||||
|
64 | 0.672 | 0.400 | 6 | 42978330 | missense variant | G/A | snv | 3.6E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
8 | 0.776 | 0.280 | 13 | 32380040 | frameshift variant | C/- | delins | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
6 | 0.851 | 0.200 | 5 | 83105046 | missense variant | T/C | snv | 1.6E-05 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.925 | 0.160 | 13 | 108209756 | frameshift variant | AG/-;AGAG | delins | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
48 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.200 | 12 | 112450368 | missense variant | AT/GC | mnv | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||||
|
2 | 0.925 | 0.120 | 6 | 116120105 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
8 | 0.807 | 0.200 | 15 | 48463123 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.120 | 5 | 42688992 | missense variant | G/T | snv | 3.0E-04 | 1.1E-03 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.120 | 5 | 42694934 | missense variant | C/T | snv | 8.1E-06 | 0.010 | < 0.001 | 1 | 2002 | 2002 | ||||
|
5 | 0.827 | 0.120 | 4 | 1805638 | synonymous variant | C/A | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 1998 | 1998 | |||
|
3 | 0.925 | 0.160 | 17 | 42292005 | missense variant | C/T | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2007 | 2007 | ||||
|
5 | 0.851 | 0.240 | 3 | 57199901 | missense variant | C/G | snv | 2.8E-05 | 1.4E-05 | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||
|
5 | 0.827 | 0.160 | 5 | 42699919 | missense variant | C/T | snv | 3.9E-03 | 4.1E-03 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
4 | 0.851 | 0.160 | 12 | 47974234 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
18 | 0.716 | 0.400 | 4 | 1804372 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
3 | 0.882 | 0.160 | 5 | 177994231 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 |