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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.160 | 18 | 55539976 | intron variant | A/G | snv | 0.24 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.716 | 0.240 | 2 | 240624322 | intron variant | G/A | snv | 0.26 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.732 | 0.280 | 3 | 49684099 | missense variant | G/A | snv | 0.26 | 0.27 |
|
0.700 | 1.000 | 4 | 2011 | 2017 | |||||||
|
0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 |
|
0.700 | 1.000 | 3 | 2013 | 2017 | ||||||||
|
0.807 | 0.120 | 2 | 203747335 | regulatory region variant | A/G | snv | 0.81 |
|
0.700 | 1.000 | 3 | 2013 | 2017 | ||||||||
|
0.807 | 0.120 | 12 | 47814585 | intron variant | T/C | snv | 0.50 |
|
0.700 | 1.000 | 2 | 2013 | 2016 | ||||||||
|
0.925 | 0.040 | 4 | 122578590 | regulatory region variant | G/T | snv | 0.10 |
|
0.700 | 1.000 | 2 | 2013 | 2017 | ||||||||
|
0.925 | 0.040 | 18 | 69876452 | intron variant | C/T | snv | 0.56 |
|
0.700 | 1.000 | 2 | 2013 | 2017 | ||||||||
|
0.742 | 0.280 | 21 | 42434957 | missense variant | A/C;G | snv | 0.27; 8.0E-06 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
0.882 | 0.080 | 21 | 39094818 | intergenic variant | G/A | snv | 0.23 |
|
0.700 | 1.000 | 2 | 2013 | 2017 | ||||||||
|
0.827 | 0.200 | 1 | 2595307 | missense variant | A/G | snv | 0.41 | 0.46 |
|
0.700 | 1.000 | 2 | 2013 | 2017 | |||||||
|
0.925 | 0.040 | 10 | 6066476 | upstream gene variant | G/A | snv | 0.33 |
|
0.700 | 1.000 | 2 | 2013 | 2017 | ||||||||
|
0.925 | 0.040 | 6 | 90320722 | intron variant | T/C | snv | 0.13 |
|
0.700 | 1.000 | 2 | 2013 | 2017 | ||||||||
|
0.925 | 0.040 | 19 | 46702450 | intron variant | A/G | snv | 0.16 |
|
0.700 | 1.000 | 2 | 2013 | 2017 | ||||||||
|
0.925 | 0.040 | 11 | 111709215 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2013 | 2017 | |||||||||
|
0.827 | 0.120 | 3 | 46387167 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.827 | 0.120 | 5 | 132421409 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.807 | 0.280 | 8 | 89837077 | downstream gene variant | C/A | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.120 | 3 | 28244770 | intron variant | C/T | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.120 | 11 | 2208529 | regulatory region variant | A/G | snv | 0.77 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.763 | 0.160 | 10 | 99523573 | upstream gene variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.827 | 0.120 | 11 | 58517478 | intergenic variant | G/A | snv | 0.95 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.763 | 0.280 | 9 | 4981602 | upstream gene variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.827 | 0.120 | 10 | 62594503 | intron variant | C/T | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.120 | 17 | 27542007 | intron variant | A/C | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |