| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.641 | 0.680 | 11 | 34438684 | upstream gene variant | C/T | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.708 | 0.400 | 15 | 51210789 | 3 prime UTR variant | G/A | snv | 0.45 | 0.43 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 5 | 150227185 | intron variant | T/C | snv | 0.24 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 5 | 180633804 | intron variant | G/C;T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.851 | 0.160 | 15 | 51257402 | intron variant | G/A | snv | 0.64 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 8 | 142612823 | 3 prime UTR variant | G/A | snv | 0.47 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.200 | 14 | 64309058 | intron variant | C/T | snv | 0.17 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.120 | 14 | 30678292 | intron variant | C/T | snv | 0.46 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 18 | 54355010 | intron variant | T/C;G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 2 | 110225473 | intron variant | A/G | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 21 | 20983528 | intergenic variant | G/A | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 8 | 134599702 | non coding transcript exon variant | A/C | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.080 | 21 | 25911954 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.807 | 0.320 | 1 | 203186952 | upstream gene variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.080 | 21 | 25975995 | missense variant | C/T | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.807 | 0.120 | 1 | 28812463 | missense variant | G/C;T | snv | 0.91 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.080 | 11 | 27658340 | missense variant | C/A | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.882 | 0.240 | 3 | 9750423 | missense variant | G/A;C | snv | 2.2E-03; 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2009 | 2009 | ||||||||
|
0.882 | 0.120 | 3 | 133775510 | missense variant | C/T | snv | 0.16 | 0.14 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.882 | 0.160 | 14 | 20472447 | missense variant | G/A | snv | 0.19 | 0.21 |
|
0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.925 | 0.120 | 17 | 45983258 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.882 | 0.160 | 12 | 10159690 | 3 prime UTR variant | G/A | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 17 | 30249058 | missense variant | T/C | snv | 0.30 | 0.29 |
|
0.010 | 1.000 | 1 | 2008 | 2008 |