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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.807 | 0.120 | 13 | 28018505 | missense variant | C/A;G;T | snv | 0.740 | 1.000 | 22 | 2001 | 2019 | |||||
|
3 | 0.882 | 0.120 | 13 | 28018504 | missense variant | T/A;G | snv | 0.700 | 1.000 | 17 | 2001 | 2014 | |||||
|
2 | 0.925 | 0.120 | 13 | 28018503 | missense variant | A/C;T | snv | 0.800 | 1.000 | 15 | 2001 | 2014 | |||||
|
23 | 0.689 | 0.200 | 15 | 90088606 | missense variant | C/A;T | snv | 0.720 | 1.000 | 12 | 2010 | 2016 | |||||
|
49 | 0.614 | 0.400 | 4 | 54733155 | missense variant | A/T | snv | 0.100 | 1.000 | 11 | 1998 | 2019 | |||||
|
52 | 0.605 | 0.400 | 4 | 54733167 | missense variant | A/G;T | snv | 0.100 | 1.000 | 11 | 1998 | 2019 | |||||
|
51 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 0.740 | 1.000 | 10 | 2009 | 2016 | |||||
|
1 | 1.000 | 0.040 | 13 | 28018502 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 9 | 2005 | 2013 | |||||
|
2 | 0.925 | 0.120 | 13 | 28018500 | missense variant | G/C | snv | 0.710 | 1.000 | 9 | 2003 | 2014 | |||||
|
59 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.710 | 1.000 | 7 | 1987 | 2016 | |||||
|
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 | |||||
|
12 | 0.763 | 0.240 | 4 | 54733174 | missense variant | T/A;G | snv | 0.750 | 1.000 | 6 | 2006 | 2013 | |||||
|
32 | 0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 5 | 1987 | 2012 | |||||
|
11 | 0.763 | 0.280 | 15 | 90088703 | missense variant | G/A;C | snv | 0.710 | 1.000 | 5 | 2010 | 2016 | |||||
|
1 | 1.000 | 0.040 | 19 | 33302164 | missense variant | T/A | snv | 0.800 | 1.000 | 5 | 2001 | 2013 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.050 | 0.800 | 5 | 2006 | 2019 | |||||
|
13 | 0.752 | 0.160 | 15 | 90088605 | missense variant | C/G | snv | 0.700 | 1.000 | 4 | 2011 | 2014 | |||||
|
2 | 0.925 | 0.080 | 9 | 5073742 | missense variant | G/C | snv | 0.810 | 1.000 | 4 | 2006 | 2019 | |||||
|
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 | |||||
|
5 | 0.851 | 0.080 | 13 | 28028203 | missense variant | G/C;T | snv | 0.720 | 1.000 | 3 | 2013 | 2016 | |||||
|
1 | 1.000 | 0.040 | 13 | 28028205 | missense variant | T/C | snv | 0.700 | 1.000 | 3 | 2012 | 2014 |