| 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 | 1 | 121538815 | intron variant | A/C;G | snv |
|
0.770 | 0.818 | 4 | 2009 | 2017 | |||||||||
|
0.925 | 0.080 | 1 | 10506158 | intron variant | A/G | snv | 0.27 |
|
0.710 | 1.000 | 4 | 2013 | 2017 | ||||||||
|
0.925 | 0.080 | 1 | 113905767 | missense variant | C/G;T | snv | 0.22 | 0.15 |
|
0.710 | 1.000 | 3 | 2013 | 2018 | |||||||
|
1.000 | 0.080 | 1 | 149955122 | intron variant | A/C | snv | 0.29 |
|
0.700 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
0.882 | 0.200 | 1 | 145790097 | intron variant | G/A | snv | 0.29 |
|
0.700 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
0.708 | 0.360 | 1 | 204549714 | 3 prime UTR variant | C/A;G | snv | 0.77; 6.2E-06 |
|
0.730 | 0.800 | 2 | 2013 | 2018 | ||||||||
|
1.000 | 0.080 | 1 | 241870961 | intron variant | A/G | snv | 2.1E-02 |
|
0.700 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
0.701 | 0.280 | 1 | 155216951 | non coding transcript exon variant | G/A;T | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 1 | 155446537 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 1 | 10503552 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 1 | 118488075 | regulatory region variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 1 | 217047232 | intron variant | G/A | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.708 | 0.280 | 1 | 210816167 | intron variant | T/G | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.120 | 1 | 149934520 | missense variant | T/C | snv | 0.33 | 0.29 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.080 | 1 | 156183252 | intergenic variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 1 | 87963341 | intron variant | C/A | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 1 | 45918469 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 1 | 155587180 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.080 | 1 | 87313534 | intergenic variant | G/T | snv | 0.19 |
|
0.710 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.200 | 1 | 113630788 | intron variant | A/G | snv | 0.90 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 1 | 50380361 | intergenic variant | GCAAGATCTCCTTTTTAAAGG/-;GCAAGATCTCCTTTTTAAAGGGCAAGATCTCCTTTTTAAAGG | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 1 | 50882601 | intron variant | AAATAAATAAATAAATAAATAAAT/-;AAAT;AAATAAAT;AAATAAATAAAT;AAATAAATAAATAAAT;AAATAAATAAATAAATAAAT;AAATAAATAAATAAATAAATAAATAAAT;AAATAAATAAATAAATAAATAAATAAATAAAT;AAATAAATAAATAAATAAATAAATAAATAAATAAAT | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 1 | 45548287 | upstream gene variant | TT/-;T;TTT;TTTT;TTTTT | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 1 | 121695219 | intergenic variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.080 | 1 | 145730328 | intron variant | A/T | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2017 | 2017 |