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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.050 | 1.000 | 5 | 2011 | 2015 | |||||
|
5 | 0.827 | 0.200 | 9 | 16915023 | upstream gene variant | T/C | snv | 0.41 | 0.820 | 1.000 | 5 | 2009 | 2013 | ||||
|
12 | 0.763 | 0.400 | 7 | 140753345 | missense variant | A/C;T | snv | 0.700 | 1.000 | 4 | 2002 | 2012 | |||||
|
4 | 0.851 | 0.120 | 2 | 176177905 | non coding transcript exon variant | A/C;T | snv | 0.720 | 1.000 | 4 | 2010 | 2017 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.040 | 0.250 | 4 | 2010 | 2015 | |||||
|
16 | 0.732 | 0.240 | 3 | 179218307 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 4 | 2006 | 2010 | |||||
|
5 | 0.851 | 0.320 | 17 | 61776459 | frameshift variant | AA/-;AAAA | delins | 0.700 | 1.000 | 4 | 2015 | 2016 | |||||
|
4 | 0.851 | 0.120 | 8 | 128531703 | intron variant | G/A | snv | 0.13 | 0.710 | 1.000 | 3 | 2010 | 2013 | ||||
|
23 | 0.683 | 0.400 | 10 | 87933148 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 3 | 2001 | 2010 | |||||
|
29 | 0.662 | 0.320 | 12 | 25207290 | 3 prime UTR variant | A/C | snv | 6.2E-02 | 0.030 | 1.000 | 3 | 2010 | 2011 | ||||
|
4 | 0.882 | 0.280 | 17 | 61684053 | frameshift variant | TGTT/-;TGTTTGTT | delins | 2.1E-05 | 0.700 | 1.000 | 3 | 2008 | 2016 | ||||
|
3 | 0.925 | 0.240 | 17 | 61808495 | frameshift variant | T/- | delins | 0.700 | 1.000 | 3 | 2015 | 2016 | |||||
|
53 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 0.710 | 1.000 | 2 | 2016 | 2017 | ||||
|
5 | 0.851 | 0.320 | 17 | 61780931 | frameshift variant | TT/- | delins | 0.700 | 1.000 | 2 | 2011 | 2016 | |||||
|
32 | 0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 2 | 2008 | 2011 | |||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.020 | 1.000 | 2 | 2012 | 2015 | |||||
|
9 | 0.763 | 0.160 | 17 | 37739849 | intron variant | T/C | snv | 0.52 | 0.710 | 1.000 | 2 | 2017 | 2017 | ||||
|
44 | 0.605 | 0.440 | 3 | 179218294 | missense variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2005 | 2012 | |||||
|
33 | 0.645 | 0.320 | 3 | 179218304 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 2 | 2005 | 2012 | |||||
|
23 | 0.677 | 0.280 | 3 | 179218306 | missense variant | C/A;G | snv | 0.700 | 1.000 | 2 | 2005 | 2012 | |||||
|
63 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 2 | 2008 | 2011 | |||||
|
16 | 0.708 | 0.400 | 14 | 64295199 | intron variant | A/C;T | snv | 0.020 | 1.000 | 2 | 2011 | 2018 | |||||
|
36 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 0.020 | 1.000 | 2 | 1997 | 1998 | |||||
|
9 | 0.790 | 0.240 | 3 | 87061524 | intergenic variant | T/C | snv | 0.76 | 0.020 | 0.500 | 2 | 2008 | 2011 | ||||
|
8 | 0.776 | 0.160 | 3 | 156679960 | intron variant | C/T | snv | 0.92 | 0.710 | 1.000 | 2 | 2010 | 2012 |