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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.040 | 6 | 32134903 | upstream gene variant | A/C | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.080 | 11 | 89272085 | intron variant | A/C | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 6 | 30410824 | upstream gene variant | A/C | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.040 | 12 | 56023144 | intron variant | A/C;G | snv |
|
0.810 | 1.000 | 1 | 2012 | 2015 | |||||||||
|
0.925 | 0.040 | 6 | 31250462 | intergenic variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.925 | 0.160 | 6 | 30353412 | downstream gene variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
1.000 | 0.040 | 6 | 31158201 | 5 prime UTR variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.925 | 0.040 | 3 | 119569567 | intergenic variant | A/C;T | snv |
|
0.810 | 1.000 | 1 | 2012 | 2015 | |||||||||
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
0.860 | 0.900 | 3 | 2005 | 2018 | |||||||
|
1.000 | 0.040 | 6 | 29969350 | downstream gene variant | A/G | snv | 0.27 |
|
0.700 | 1.000 | 2 | 2011 | 2012 | ||||||||
|
1.000 | 0.040 | 11 | 35259305 | 3 prime UTR variant | A/G | snv | 0.33 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 6 | 31446233 | non coding transcript exon variant | A/G | snv | 1.8E-02 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 6 | 32615019 | intergenic variant | A/G | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.724 | 0.280 | 2 | 162254026 | regulatory region variant | A/G | snv | 0.46 |
|
0.800 | 1.000 | 1 | 2012 | 2016 | ||||||||
|
1.000 | 0.040 | 6 | 30456297 | downstream gene variant | A/G | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 6 | 30455446 | non coding transcript exon variant | A/G | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 6 | 30418117 | intron variant | A/G | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 6 | 30446458 | upstream gene variant | A/G | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 6 | 30430063 | intergenic variant | A/G | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 16 | 89751681 | intron variant | A/G | snv | 0.54 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 6 | 31859509 | 3 prime UTR variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.882 | 0.120 | 1 | 8441726 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.040 | 6 | 30438979 | intergenic variant | C/A | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 3 | 188406566 | intron variant | C/A | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.827 | 0.240 | 6 | 32178715 | intron variant | C/A | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2010 | 2010 |