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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 2 | 230954091 | intron variant | G/A | snv | 5.8E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.160 | 18 | 24100771 | intron variant | G/A | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 15 | 79571143 | intergenic variant | C/T | snv | 1.1E-04 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.160 | 6 | 89238513 | intergenic variant | A/C | snv | 0.37 |
|
0.710 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 16 | 250642 | intron variant | G/A | snv | 0.32 |
|
0.700 | 1.000 | 2 | 2017 | 2018 | ||||||||
|
0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 |
|
0.900 | 0.961 | 2 | 2007 | 2019 | ||||||||
|
0.925 | 0.120 | 16 | 53785257 | intron variant | T/C | snv | 0.41 |
|
0.800 | 1.000 | 3 | 2012 | 2016 | ||||||||
|
1.000 | 0.080 | 4 | 82663343 | intron variant | A/G | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.160 | 16 | 53492639 | non coding transcript exon variant | C/T | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 17 | 47808390 | synonymous variant | C/T | snv | 0.50 | 0.58 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.882 | 0.160 | 17 | 75422781 | intergenic variant | A/C | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 17 | 48911792 | non coding transcript exon variant | A/G | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 17 | 42761348 | synonymous variant | C/T | snv | 0.46 | 0.39 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 17 | 67991933 | missense variant | T/C | snv | 0.64 | 0.60 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 3 | 8208835 | intron variant | C/T | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 3 | 150379848 | regulatory region variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.080 | 3 | 64017221 | non coding transcript exon variant | T/C | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 15 | 63531102 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.080 | 7 | 130782095 | intergenic variant | A/G;T | snv |
|
0.840 | 1.000 | 1 | 2010 | 2016 | |||||||||
|
1.000 | 0.080 | 5 | 56565774 | intron variant | G/A | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 5 | 56565959 | intron variant | C/T | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 7 | 140912363 | intron variant | A/G;T | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 7 | 118657790 | regulatory region variant | A/G | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 13 | 50521959 | intron variant | A/T | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 13 | 23290518 | intron variant | G/A | snv | 1.2E-02 |
|
0.820 | 1.000 | 1 | 2013 | 2017 |