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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
187 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 0.800 | 0.966 | 175 | 2005 | 2020 | ||||
|
7 | 0.790 | 0.120 | 1 | 43349308 | missense variant | G/A | snv | 0.730 | 1.000 | 5 | 2008 | 2020 | |||||
|
5 | 0.851 | 0.080 | 1 | 43337929 | splice donor variant | T/A | snv | 4.0E-04 | 1.7E-04 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.040 | 19 | 12943751 | splice donor variant | CTTAAGGAGGAGGAAGAAGACAAGAAACGCAAAGAGGAGGAGGAGGCAGAGG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 12 | 111418745 | frameshift variant | GCGCT/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.040 | 20 | 37403347 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
25 | 0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 | 0.100 | 0.929 | 14 | 2006 | 2020 | ||||
|
8 | 0.790 | 0.120 | 1 | 43349337 | missense variant | TG/AA | mnv | 0.050 | 1.000 | 5 | 2009 | 2014 | |||||
|
12 | 0.790 | 0.200 | 2 | 8731667 | missense variant | C/A | snv | 2.4E-04 | 2.6E-04 | 0.040 | 1.000 | 4 | 2007 | 2015 | |||
|
3 | 0.882 | 0.080 | 9 | 5057284 | intron variant | T/A | snv | 0.33 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
4 | 0.882 | 0.160 | 9 | 5070831 | intron variant | C/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.080 | 9 | 5072846 | intron variant | G/A | snv | 0.23 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.925 | 0.160 | 17 | 7675174 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.882 | 0.160 | 1 | 150093558 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.160 | 17 | 7675175 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
28 | 0.662 | 0.560 | 17 | 7674229 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
51 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
19 | 0.708 | 0.320 | 15 | 90088702 | missense variant | C/A;T | snv | 3.2E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.080 | 4 | 54695598 | missense variant | G/A | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 1997 | 1997 | ||||
|
5 | 0.851 | 0.080 | 9 | 5065750 | intron variant | G/C | snv | 0.23 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 2 | 25246661 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
11 | 0.763 | 0.280 | 15 | 90088703 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
47 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
92 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.080 | 19 | 11390564 | intron variant | A/G | snv | 0.73 | 0.010 | 1.000 | 1 | 2008 | 2008 |