| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.080 | 9 | 5213687 | intergenic variant | T/C | snv | 0.43 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 12 | 68202881 | intron variant | T/C | snv | 7.0E-02 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 6 | 31143579 | intron variant | C/T | snv | 0.16 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 13 | 39931373 | regulatory region variant | C/T | snv | 0.44 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.120 | 12 | 68110812 | intron variant | G/A | snv | 0.41 |
|
0.800 | 1.000 | 2 | 2009 | 2010 | ||||||||
|
1.000 | 0.040 | 7 | 107862996 | intergenic variant | A/C | snv | 0.34 |
|
0.800 | 1.000 | 2 | 2009 | 2010 | ||||||||
|
0.827 | 0.160 | 10 | 99531836 | upstream gene variant | T/C | snv | 0.55 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 9 | 114842790 | upstream gene variant | T/C | snv | 0.13 |
|
0.710 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.827 | 0.200 | 1 | 200966738 | downstream gene variant | T/C | snv | 0.24 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.827 | 0.200 | 2 | 60959694 | intron variant | A/G | snv | 0.50 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.120 | 1 | 19813543 | upstream gene variant | G/A;T | snv | 0.24 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 6 | 32111790 | non coding transcript exon variant | T/C;G | snv |
|
0.810 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.851 | 0.160 | 21 | 15432901 | intron variant | T/C | snv | 0.33 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.763 | 0.280 | 17 | 39905943 | missense variant | G/A | snv | 0.40 | 0.35 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.763 | 0.360 | 9 | 136372044 | missense variant | C/A;T | snv | 4.0E-06; 0.41 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.120 | 1 | 19901230 | intron variant | G/C;T | snv |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.925 | 0.120 | 7 | 99162881 | regulatory region variant | G/A;T | snv |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
1.000 | 0.040 | 6 | 32465058 | intron variant | C/T | snv | 0.29 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.040 | 3 | 49664550 | synonymous variant | G/A | snv | 0.26 | 0.27 |
|
0.810 | 1.000 | 1 | 2009 | 2010 | |||||||
|
0.776 | 0.080 | 10 | 99530544 | intron variant | T/C | snv | 0.56 |
|
0.800 | 1.000 | 2 | 2009 | 2011 | ||||||||
|
0.882 | 0.160 | 1 | 22371954 | intergenic variant | A/G | snv | 0.21 |
|
0.800 | 1.000 | 2 | 2009 | 2011 | ||||||||
|
1.000 | 0.040 | 10 | 35265126 | intron variant | T/C;G | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.827 | 0.280 | 4 | 122408207 | intron variant | G/A | snv | 0.20 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.080 | 9 | 114830358 | regulatory region variant | T/C | snv | 7.2E-02 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.807 | 0.160 | 20 | 63696229 | 3 prime UTR variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 |