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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.030 | 0.667 | 3 | 2009 | 2012 | |||||||||
|
0.701 | 0.440 | 12 | 62603400 | non coding transcript exon variant | T/C | snv | 0.42 |
|
0.020 | 1.000 | 2 | 2017 | 2018 | ||||||||
|
0.807 | 0.080 | 6 | 40834522 | intergenic variant | T/C | snv | 0.31 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.160 | 4 | 184627797 | 3 prime UTR variant | A/G | snv | 0.13 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.040 | 10 | 93588425 | 3 prime UTR variant | T/C | snv | 0.44 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.040 | 7 | 2294751 | intron variant | G/A | snv | 2.9E-02 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.040 | 10 | 129691518 | intron variant | A/C;G | snv | 0.66 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.080 | 6 | 40354019 | intron variant | A/G | snv | 0.46 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.040 | 11 | 108281026 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.716 | 0.320 | 6 | 108659993 | intron variant | T/G | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.851 | 0.080 | 3 | 10294607 | non coding transcript exon variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.925 | 0.040 | 18 | 31607316 | intergenic variant | A/C;G;T | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.040 | 17 | 58692526 | upstream gene variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.925 | 0.040 | 17 | 58693735 | 3 prime UTR variant | C/T | snv | 0.17 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.555 | 0.760 | 7 | 22726627 | non coding transcript exon variant | G/C | snv | 9.9E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.602 | 0.680 | 11 | 112164265 | intron variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.602 | 0.760 | 11 | 112164735 | intron variant | T/G | snv | 0.60 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.080 | 21 | 34985564 | intron variant | A/G;T | snv | 0.75 |
|
0.010 | < 0.001 | 1 | 2013 | 2013 | ||||||||
|
0.732 | 0.440 | 14 | 35405593 | upstream gene variant | G/A | snv | 0.26 |
|
0.010 | < 0.001 | 1 | 2019 | 2019 | ||||||||
|
0.570 | 0.760 | 5 | 132673462 | upstream gene variant | C/T | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.807 | 0.120 | 7 | 21544470 | intron variant | G/A | snv | 0.44 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||||
|
0.752 | 0.240 | 6 | 40568389 | intron variant | G/A | snv | 0.51 |
|
0.010 | 1.000 | 1 | 2015 | 2015 |