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 | 0.160 | 12 | 10908523 | missense variant | T/A;C | snv | 4.0E-06; 0.59 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.160 | 2 | 102351752 | missense variant | A/G;T | snv | 0.34 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.882 | 0.160 | 2 | 102349850 | intron variant | G/A | snv | 0.33 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
6 | 0.851 | 0.240 | 7 | 141972804 | missense variant | T/C | snv | 0.49 | 0.47 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
3 | 0.882 | 0.160 | 5 | 174729222 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 1996 | 1996 | |||||
|
7 | 0.925 | 0.120 | 8 | 115604739 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
4 | 1.000 | 0.080 | 9 | 35805944 | frameshift variant | GTGGTCCTTTC/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 10 | 121498597 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
4 | 0.882 | 0.120 | 9 | 106927699 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 9 | 106926891 | frameshift variant | TG/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 9 | 106928174 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 5 | 428121 | intron variant | C/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.851 | 0.120 | 11 | 68357801 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
8 | 0.776 | 0.200 | 8 | 38424690 | missense variant | G/C | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 1997 | 2000 | ||||
|
30 | 0.653 | 0.600 | 4 | 1806163 | missense variant | A/C;T | snv | 0.710 | 0.833 | 6 | 1999 | 2016 | |||||
|
3 | 0.882 | 0.240 | 4 | 1806076 | missense variant | G/A | snv | 0.700 | 1.000 | 2 | 2006 | 2016 | |||||
|
31 | 0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 | 0.700 | 1.000 | 6 | 1995 | 2015 | ||||
|
18 | 0.716 | 0.400 | 4 | 1804372 | missense variant | A/G | snv | 0.700 | 1.000 | 4 | 1996 | 2017 | |||||
|
25 | 0.716 | 0.440 | 10 | 121517378 | missense variant | C/A;G;T | snv | 0.710 | 1.000 | 1 | 2017 | 2017 | |||||
|
7 | 0.790 | 0.120 | 10 | 121517379 | missense variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
15 | 0.716 | 0.440 | 10 | 121517371 | synonymous variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.807 | 0.080 | 10 | 121520050 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
9 | 0.807 | 0.120 | 10 | 121517460 | missense variant | C/A;T | snv | 2.4E-05 | 0.030 | 1.000 | 3 | 2000 | 2004 | ||||
|
3 | 0.882 | 0.080 | 10 | 121496701 | missense variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.080 | 12 | 10997434 | missense variant | G/T | snv | 0.42 | 0.30 | 0.010 | 1.000 | 1 | 2014 | 2014 |