| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.763 | 0.280 | 12 | 112207597 | intron variant | G/A | snv | 3.8E-03 |
|
0.800 | 1.000 | 2 | 2011 | 2017 | ||||||||
|
0.882 | 0.120 | 3 | 133775510 | missense variant | C/T | snv | 0.16 | 0.14 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.080 | 12 | 110895818 | intron variant | T/C | snv | 0.39 |
|
0.800 | 1.000 | 1 | 2011 | 2017 | ||||||||
|
0.763 | 0.320 | 12 | 110976657 | intergenic variant | T/G | snv | 4.8E-03 |
|
0.800 | 1.000 | 1 | 2011 | 2017 | ||||||||
|
0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 |
|
0.800 | 1.000 | 1 | 2013 | 2017 | ||||||||
|
3 | 133818223 | intron variant | A/G | snv | 0.28 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1.000 | 0.080 | 3 | 133756968 | missense variant | G/A | snv | 5.2E-02 | 4.5E-02 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
12 | 112971371 | 3 prime UTR variant | G/A | snv | 3.7E-03 |
|
0.800 | 1.000 | 1 | 2011 | 2017 | ||||||||||
|
1 | 63661797 | downstream gene variant | C/G | snv | 0.19 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
0.807 | 0.120 | 3 | 133765185 | intron variant | G/A | snv | 0.31 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
11 | 8229264 | intron variant | C/A | snv | 0.57 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
9 | 14441679 | intron variant | G/A | snv | 7.6E-02 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 |
|
0.800 | 1.000 | 1 | 2013 | 2017 | |||||||
|
0.882 | 0.080 | 7 | 70341037 | intron variant | T/A | snv | 0.34 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
7 | 118938630 | intergenic variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
7 | 118944637 | intergenic variant | G/A | snv | 0.86 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
3 | 133566686 | intergenic variant | G/T | snv | 0.57 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
3 | 133543963 | upstream gene variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
3 | 133623144 | missense variant | T/C;G | snv | 0.29; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
3 | 133720340 | intron variant | T/C | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
7 | 118968071 | intergenic variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
7 | 118968349 | intergenic variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
0.925 | 0.120 | 12 | 111730205 | intron variant | G/A | snv | 5.9E-03 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.742 | 0.280 | 12 | 112379979 | intron variant | T/A | snv | 7.0E-03 |
|
0.700 | 1.000 | 1 | 2013 | 2013 |