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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.925 | 0.200 | 17 | 43045793 | splice acceptor variant | CCAATTGC/-;CCAATTGCCCAATTGC | delins | 0.700 | 1.000 | 13 | 1976 | 2016 | |||||
|
44 | 0.605 | 0.440 | 3 | 179218294 | missense variant | G/A;C | snv | 0.700 | 1.000 | 12 | 2004 | 2016 | |||||
|
33 | 0.645 | 0.320 | 3 | 179218304 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 10 | 2004 | 2016 | |||||
|
23 | 0.677 | 0.280 | 3 | 179218306 | missense variant | C/A;G | snv | 0.700 | 1.000 | 9 | 2004 | 2016 | |||||
|
16 | 0.732 | 0.240 | 3 | 179218307 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 9 | 2004 | 2016 | |||||
|
2 | 3 | 179218315 | missense variant | G/A | snv | 0.700 | 1.000 | 8 | 2004 | 2012 | |||||||
|
13 | 0.776 | 0.200 | 17 | 39723967 | missense variant | T/C;G | snv | 0.700 | 1.000 | 5 | 2008 | 2016 | |||||
|
3 | 1.000 | 0.080 | 10 | 87933236 | missense variant | G/A;T | snv | 0.700 | 1.000 | 4 | 1999 | 2010 | |||||
|
25 | 0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv | 0.700 | 1.000 | 4 | 1999 | 2010 | |||||
|
4 | 1.000 | 0.080 | 10 | 87958013 | frameshift variant | A/- | delins | 0.700 | 1.000 | 4 | 1999 | 2010 | |||||
|
7 | 0.827 | 0.160 | 17 | 39724008 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 4 | 2006 | 2016 | |||||
|
8 | 0.807 | 0.120 | 17 | 39724747 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 4 | 2011 | 2016 | |||||
|
9 | 0.882 | 0.080 | 6 | 151944320 | missense variant | A/G | snv | 0.040 | 1.000 | 4 | 2005 | 2009 | |||||
|
73 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.710 | 1.000 | 3 | 2014 | 2017 | |||||
|
2 | 6 | 152011697 | missense variant | G/C | snv | 0.700 | 1.000 | 3 | 2013 | 2014 | |||||||
|
20 | 0.763 | 0.480 | 7 | 140781617 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 3 | 2002 | 2014 | |||||
|
1 | 6 | 152098785 | missense variant | T/G | snv | 0.700 | 1.000 | 2 | 2013 | 2013 | |||||||
|
9 | 0.827 | 0.160 | 1 | 121538815 | intron variant | A/C;G | snv | 0.020 | 1.000 | 2 | 2010 | 2014 | |||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.020 | 1.000 | 2 | 2005 | 2009 | |||||
|
23 | 0.683 | 0.400 | 10 | 87933148 | missense variant | G/A;C;T | snv | 0.710 | 1.000 | 2 | 2016 | 2016 | |||||
|
13 | 0.752 | 0.400 | 3 | 179210192 | missense variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2014 | 2016 | |||||
|
4 | 0.882 | 0.040 | 3 | 179221072 | missense variant | A/C | snv | 0.700 | 1.000 | 2 | 2005 | 2014 | |||||
|
11 | 0.776 | 0.160 | 3 | 179203765 | missense variant | T/A;G | snv | 0.700 | 1.000 | 2 | 2014 | 2016 | |||||
|
12 | 0.752 | 0.400 | 3 | 179199088 | missense variant | G/A | snv | 0.700 | 1.000 | 2 | 2014 | 2016 | |||||
|
1 | 15 | 28260816 | inframe deletion | GTCCAGTCCTGGCAA/- | del | 0.700 | 1.000 | 2 | 2006 | 2013 |