| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.120 | 5 | 1393745 | 3 prime UTR variant | -/AGTGGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCC | delins | 8.1E-06 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.080 | 19 | 44914381 | 5 prime UTR variant | -/CGTT | delins |
|
0.020 | 1.000 | 2 | 2014 | 2019 | |||||||||
|
1.000 | 0.080 | 14 | 73186881 | inframe insertion | -/TAT | delins |
|
0.700 | 0 | ||||||||||||
|
0.677 | 0.480 | 17 | 63488529 | intron variant | -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | delins |
|
0.030 | 1.000 | 3 | 2009 | 2016 | |||||||||
|
1.000 | 0.080 | 10 | 49625580 | frameshift variant | A/- | del | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.851 | 0.080 | 21 | 25891783 | missense variant | A/C | snv |
|
0.710 | 1.000 | 21 | 1991 | 2005 | |||||||||
|
1.000 | 0.080 | 19 | 44909698 | non coding transcript exon variant | A/C | snv | 3.0E-02 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
0.925 | 0.120 | 19 | 44747899 | non coding transcript exon variant | A/C | snv | 0.50 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
1.000 | 0.080 | 2 | 127133851 | intergenic variant | A/C | snv | 0.47 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
1.000 | 0.080 | 1 | 207629207 | intron variant | A/C | snv | 0.87 |
|
0.710 | 1.000 | 2 | 2011 | 2012 | ||||||||
|
1.000 | 0.080 | 19 | 44662645 | 3 prime UTR variant | A/C | snv | 0.92 |
|
0.700 | 1.000 | 2 | 2011 | 2014 | ||||||||
|
1.000 | 0.080 | 8 | 27354759 | intron variant | A/C | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 2 | 17592731 | intron variant | A/C | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 8 | 134599702 | non coding transcript exon variant | A/C | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 6 | 85308630 | intergenic variant | A/C | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 10 | 67521827 | intron variant | A/C | snv | 0.16 | 0.13 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.200 | 17 | 34320812 | missense variant | A/C | snv | 0.21 | 0.15 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.080 | 11 | 86163280 | regulatory region variant | A/C | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 19 | 44908634 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.080 | 7 | 64946786 | upstream gene variant | A/C | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 11 | 85685837 | missense variant | A/C | snv | 5.4E-03 | 6.0E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.080 | 21 | 26022022 | missense variant | A/C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.280 | 6 | 41161277 | missense variant | A/C | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.120 | 14 | 73192840 | missense variant | A/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 |