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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.160 | 16 | 52565276 | intron variant | C/T | snv | 0.20 |
|
0.770 | 1.000 | 4 | 2010 | 2020 | ||||||||
|
0.882 | 0.120 | 6 | 81483392 | intergenic variant | T/C | snv | 0.19 |
|
0.730 | 1.000 | 2 | 2012 | 2020 | ||||||||
|
0.662 | 0.440 | 16 | 52552429 | non coding transcript exon variant | A/G | snv | 0.63 |
|
0.900 | 0.953 | 11 | 2007 | 2019 | ||||||||
|
0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 |
|
0.750 | 1.000 | 6 | 2011 | 2019 | ||||||||
|
0.807 | 0.120 | 3 | 27374522 | 3 prime UTR variant | C/T | snv | 0.44 |
|
0.800 | 1.000 | 6 | 2009 | 2019 | ||||||||
|
0.708 | 0.280 | 6 | 151627231 | intergenic variant | G/A | snv | 0.41 |
|
0.900 | 1.000 | 5 | 2009 | 2019 | ||||||||
|
0.807 | 0.080 | 2 | 120487546 | intergenic variant | T/A;C | snv |
|
0.710 | 1.000 | 3 | 2013 | 2019 | |||||||||
|
0.695 | 0.360 | 10 | 121592803 | intron variant | A/G | snv | 0.58 |
|
0.800 | 0.972 | 2 | 2007 | 2019 | ||||||||
|
1.000 | 0.080 | 10 | 15029386 | upstream gene variant | T/C | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 2 | 20885650 | intergenic variant | T/C | snv | 0.86 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 8 | 131109670 | intergenic variant | A/G | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 11 | 116622438 | intergenic variant | G/A | snv | 3.1E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 14 | 56410241 | intron variant | T/G | snv | 0.93 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 16 | 52601088 | intron variant | C/T | snv | 0.19 |
|
0.720 | 1.000 | 1 | 2013 | 2019 | ||||||||
|
1.000 | 0.080 | 5 | 132663184 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.807 | 0.120 | 14 | 68232877 | intron variant | C/T | snv | 0.13 |
|
0.830 | 1.000 | 1 | 2012 | 2019 | ||||||||
|
1.000 | 0.080 | 6 | 71740732 | intergenic variant | G/A | snv | 0.85 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 15 | 75039102 | intron variant | C/G | snv | 4.5E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 2 | 112624477 | upstream gene variant | A/G | snv | 3.4E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.641 | 0.480 | 11 | 1995678 | non coding transcript exon variant | G/A | snv | 0.20 |
|
0.740 | 0.800 | 1 | 2016 | 2019 | ||||||||
|
1.000 | 0.080 | 6 | 50427424 | intergenic variant | CTTA/- | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 2 | 32224803 | intron variant | TTTTT/-;T;TT;TTT;TTTT;TTTTTT;TTTTTTTT | delins | 0.48 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.200 | 2 | 201258707 | intron variant | C/T | snv | 0.57 |
|
0.710 | 0.500 | 1 | 2017 | 2019 | ||||||||
|
0.827 | 0.120 | 2 | 217056046 | intergenic variant | G/T | snv | 0.47 |
|
0.730 | 1.000 | 1 | 2016 | 2019 | ||||||||
|
1.000 | 0.080 | 14 | 50772463 | synonymous variant | G/A | snv | 1.5E-02 | 1.5E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |