| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 15 | 84039099 | 3 prime UTR variant | A/G | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 5 | 127833520 | intron variant | A/G | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.790 | 0.240 | 15 | 44659104 | frameshift variant | A/-;AA | delins |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.040 | 6 | 30353955 | downstream gene variant | C/A | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 6 | 27218013 | intergenic variant | T/A | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 6 | 27295862 | intron variant | A/T | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 6 | 27261486 | downstream gene variant | G/A | snv | 8.4E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 22 | 25743411 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.925 | 0.080 | 3 | 180832914 | intron variant | G/T | snv | 0.80 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 6 | 27079477 | upstream gene variant | G/A | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 6 | 27263371 | upstream gene variant | A/G | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.882 | 0.160 | 6 | 25820996 | intron variant | C/T | snv | 7.0E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 1 | 96698787 | upstream gene variant | A/G | snv | 0.22 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.080 | 6 | 27758952 | upstream gene variant | C/T | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 6 | 27091664 | intergenic variant | A/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.160 | 6 | 32634492 | intron variant | G/T | snv | 0.29 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.827 | 0.280 | 6 | 32638979 | synonymous variant | G/A | snv | 3.0E-05 | 1.8E-03 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.882 | 0.160 | 6 | 25836699 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.040 | 6 | 27777959 | downstream gene variant | G/A | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.882 | 0.160 | 6 | 25873518 | intron variant | C/A | snv | 7.3E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 7 | 82746056 | intergenic variant | C/T | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 6 | 27281152 | downstream gene variant | T/C | snv | 0.26 |
|
0.800 | 1.000 | 3 | 2009 | 2011 | ||||||||
|
1.000 | 0.040 | 5 | 102523613 | regulatory region variant | C/T | snv | 0.66 |
|
0.800 | 1.000 | 2 | 2009 | 2011 | ||||||||
|
1.000 | 0.040 | 6 | 27288323 | intron variant | A/C | snv | 0.33 |
|
0.700 | 1.000 | 2 | 2009 | 2011 | ||||||||
|
1.000 | 0.040 | 6 | 27123646 | upstream gene variant | C/A | snv | 0.14 |
|
0.700 | 1.000 | 2 | 2009 | 2011 |