| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.040 | 6 | 34068669 | intron variant | C/T | snv | 0.25 |
|
0.820 | 1.000 | 2 | 2013 | 2016 | ||||||||
|
0.882 | 0.040 | 5 | 65151950 | splice region variant | C/G;T | snv | 0.48 |
|
0.810 | 1.000 | 1 | 2013 | 2014 | ||||||||
|
0.882 | 0.040 | 2 | 6321289 | intron variant | A/C | snv | 0.57 |
|
0.810 | 1.000 | 1 | 2013 | 2014 | ||||||||
|
0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 |
|
0.720 | 1.000 | 2 | 2007 | 2012 | ||||||||
|
0.882 | 0.040 | 9 | 14190288 | intron variant | A/T | snv | 0.81 |
|
0.720 | 1.000 | 2 | 2015 | 2019 | ||||||||
|
0.882 | 0.040 | 2 | 6383862 | intergenic variant | A/G | snv | 0.30 |
|
0.710 | 1.000 | 1 | 2013 | 2014 | ||||||||
|
0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 |
|
0.710 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 |
|
0.100 | 0.833 | 12 | 2012 | 2018 | ||||||||
|
0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 |
|
0.100 | 0.818 | 11 | 2012 | 2018 | |||||||
|
0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 |
|
0.080 | 0.625 | 8 | 2012 | 2018 | ||||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.040 | 0.750 | 4 | 2007 | 2019 | ||||||||
|
0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 |
|
0.040 | 0.750 | 4 | 2015 | 2018 | |||||||
|
0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 |
|
0.030 | 1.000 | 3 | 2011 | 2019 | ||||||||
|
0.620 | 0.400 | 19 | 45409478 | stop gained | C/A;G;T | snv | 0.29; 4.3E-06; 4.3E-06 |
|
0.030 | 0.667 | 3 | 2017 | 2018 | ||||||||
|
0.695 | 0.320 | 13 | 102852167 | synonymous variant | T/C | snv | 0.52 | 0.59 |
|
0.020 | 1.000 | 2 | 2013 | 2018 | |||||||
|
0.752 | 0.160 | 15 | 90088605 | missense variant | C/G | snv |
|
0.020 | 1.000 | 2 | 2013 | 2014 | |||||||||
|
0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 |
|
0.020 | 1.000 | 2 | 2015 | 2019 | |||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.020 | 0.500 | 2 | 2007 | 2009 | |||||||||
|
0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 |
|
0.020 | 1.000 | 2 | 2009 | 2011 | ||||||||
|
0.882 | 0.040 | 12 | 68841626 | 3 prime UTR variant | G/A | snv | 0.35 |
|
0.020 | 0.500 | 2 | 2014 | 2016 | ||||||||
|
0.597 | 0.560 | 13 | 102875652 | missense variant | G/C | snv | 0.28 | 0.30 |
|
0.020 | 1.000 | 2 | 2012 | 2015 | |||||||
|
0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 |
|
0.020 | 0.500 | 2 | 2015 | 2017 | ||||||||
|
0.851 | 0.120 | 6 | 12288986 | upstream gene variant | T/G | snv | 0.24 |
|
0.020 | 1.000 | 2 | 2013 | 2014 | ||||||||
|
0.752 | 0.080 | 6 | 12292539 | intron variant | G/C;T | snv | 0.45 |
|
0.020 | 0.500 | 2 | 2013 | 2014 | ||||||||
|
0.605 | 0.640 | 12 | 68808800 | intron variant | T/G | snv | 0.31 |
|
0.020 | < 0.001 | 2 | 2014 | 2016 |