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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
0.850 | 0.667 | 6 | 2006 | 2017 | |||||||
|
0.882 | 0.120 | 1 | 107800465 | intron variant | G/A;T | snv |
|
0.710 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.882 | 0.120 | 2 | 203880280 | regulatory region variant | T/C | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 4 | 165013422 | upstream gene variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 9 | 74698280 | intergenic variant | G/T | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.120 | 3 | 188407332 | intron variant | C/T | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.827 | 0.160 | 2 | 12500615 | intron variant | G/A | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 4 | 165026338 | non coding transcript exon variant | G/A | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.200 | 6 | 46677138 | 3 prime UTR variant | C/T | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.752 | 0.240 | 11 | 95578258 | intron variant | T/C | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.120 | 16 | 31174561 | upstream gene variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.040 | 7 | 118685680 | intergenic variant | A/T | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.160 | 10 | 6056861 | intron variant | T/C | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 10 | 46002468 | intron variant | C/T | snv | 9.5E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.695 | 0.360 | 6 | 90267049 | intron variant | G/A | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 17 | 51671952 | intron variant | A/G | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 17 | 13456118 | intergenic variant | A/T | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.160 | 10 | 87952231 | frameshift variant | AT/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.100 | 1.000 | 12 | 2008 | 2019 | ||||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.100 | 1.000 | 12 | 2008 | 2019 | |||||||||
|
0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 |
|
0.090 | 1.000 | 9 | 2001 | 2019 | ||||||||
|
0.689 | 0.600 | 19 | 51693200 | non coding transcript exon variant | T/C | snv | 0.45 |
|
0.020 | 1.000 | 2 | 2014 | 2017 | ||||||||
|
0.807 | 0.240 | 15 | 101277522 | upstream gene variant | C/T | snv | 0.24 |
|
0.020 | 1.000 | 2 | 2014 | 2015 | ||||||||
|
0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 |
|
0.020 | 0.500 | 2 | 2014 | 2020 | ||||||||
|
0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 |
|
0.020 | 0.500 | 2 | 2014 | 2020 |