| 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 | 0.080 | 8 | 20007664 | intergenic variant | A/G | snv | 0.25 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.080 | 8 | 19968862 | downstream gene variant | G/A | snv | 0.61 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 6 | 50830813 | intron variant | C/T | snv | 0.19 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.763 | 0.440 | 11 | 116789970 | 3 prime UTR variant | G/A | snv | 0.93 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.827 | 0.160 | 16 | 56956804 | regulatory region variant | C/A | snv | 0.29 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.637 | 0.480 | 8 | 19956018 | missense variant | A/G | snv | 1.3E-02 | 1.3E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.040 | 8 | 19958727 | intron variant | A/C | snv | 0.28 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.160 | 8 | 19959423 | intron variant | T/C | snv | 0.24 | 0.26 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.732 | 0.400 | 6 | 31481199 | non coding transcript exon variant | C/A | snv | 0.11 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 7 | 44191617 | intron variant | T/C;G | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.040 | 1 | 230171436 | intron variant | T/A;C;G | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.040 | 21 | 43359800 | intron variant | C/T | snv | 0.73 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 2 | 168926370 | intron variant | A/T | snv | 0.73 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 2 | 20923592 | intergenic variant | C/A | snv | 0.19 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 2 | 21014672 | intron variant | G/A;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.080 | 7 | 15025359 | intergenic variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.040 | 2 | 55616277 | intron variant | C/T | snv | 0.44 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 8 | 19987865 | TF binding site variant | C/T | snv | 0.15 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 9 | 127857358 | upstream gene variant | C/G;T | snv |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
1.000 | 0.040 | 16 | 67877614 | synonymous variant | T/C | snv | 0.23 | 0.32 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.040 | 16 | 56968820 | intron variant | T/G | snv | 0.75 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.120 | 16 | 53766842 | intron variant | G/A | snv | 0.42 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 8 | 9325848 | non coding transcript exon variant | A/G | snv | 0.87 |
|
0.800 | 1.000 | 1 | 2011 | 2011 |