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 | 0.080 | 11 | 129612280 | non coding transcript exon variant | A/G;T | snv |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||||
|
0.827 | 0.120 | 6 | 33207798 | upstream gene variant | C/T | snv | 0.27 | 0.28 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.742 | 0.240 | 9 | 21114238 | intergenic variant | A/G | snv | 0.44 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.882 | 0.080 | 17 | 48525070 | downstream gene variant | T/C | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.701 | 0.440 | 12 | 62603400 | non coding transcript exon variant | T/C | snv | 0.42 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.637 | 0.600 | 3 | 169774313 | synonymous variant | C/T | snv | 0.29 | 0.21 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.807 | 0.080 | 3 | 189665394 | intron variant | C/T | snv | 0.38 |
|
0.040 | 1.000 | 4 | 2012 | 2015 | ||||||||
|
0.882 | 0.080 | 11 | 94493959 | upstream gene variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.790 | 0.240 | 2 | 233693556 | missense variant | A/C | snv | 0.35 | 0.34 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.882 | 0.080 | 15 | 78637136 | intron variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.080 | 22 | 46111790 | non coding transcript exon variant | T/C | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.807 | 0.120 | 2 | 113236840 | non coding transcript exon variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.851 | 0.200 | 8 | 6538661 | intron variant | A/C | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.752 | 0.160 | 10 | 112709306 | intron variant | A/T | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.708 | 0.200 | 10 | 112967084 | intron variant | G/A | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.080 | 11 | 108348120 | intron variant | A/G | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.080 | 5 | 1285917 | intron variant | G/A | snv | 7.8E-03 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.776 | 0.200 | 2 | 218136011 | 3 prime UTR variant | T/C | snv | 0.62 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 |
|
0.100 | 0.813 | 16 | 2004 | 2019 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.100 | 0.875 | 16 | 2000 | 2018 | |||||||||
|
0.827 | 0.160 | 17 | 7670685 | frameshift variant | GG/A;G | delins |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.050 | 1.000 | 5 | 2006 | 2018 | ||||||||
|
0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 |
|
0.020 | 1.000 | 2 | 2015 | 2019 |