| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.080 | 2 | 218290058 | 5 prime UTR variant | G/A | snv | 0.46 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
3 | 108046545 | 3 prime UTR variant | G/A | snv | 0.45 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.851 | 0.080 | X | 67545492 | missense variant | C/A;T | snv | 6.6E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.776 | 0.200 | 2 | 217445617 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.742 | 0.200 | 9 | 97793827 | intron variant | A/G;T | snv |
|
0.030 | 1.000 | 3 | 2014 | 2019 | |||||||||
|
0.925 | 0.080 | 13 | 91351335 | mature miRNA variant | G/A;C | snv | 5.4E-03; 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||||
|
9 | 130770618 | intron variant | C/T | snv | 0.44 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.742 | 0.200 | 14 | 36180040 | upstream gene variant | C/T | snv | 0.45 |
|
0.020 | 1.000 | 2 | 2015 | 2019 | ||||||||
|
1.000 | 0.040 | 6 | 152059380 | intron variant | C/T | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.742 | 0.240 | 1 | 241885372 | missense variant | C/T | snv | 0.21 | 0.19 |
|
0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.790 | 0.160 | 11 | 65637829 | upstream gene variant | G/A | snv | 0.49 |
|
0.020 | 1.000 | 2 | 2010 | 2013 | ||||||||
|
0.633 | 0.480 | 12 | 53966448 | intron variant | G/A | snv | 0.57 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.040 | 11 | 112087944 | missense variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.623 | 0.560 | 19 | 13836478 | non coding transcript exon variant | T/A;C;G | snv | 0.34 | 0.38 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.020 | 1.000 | 2 | 2010 | 2014 | |||||||||
|
7 | 140781608 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
17 | 7675109 | missense variant | T/C | snv |
|
0.010 | 1.000 | 1 | 1999 | 1999 | |||||||||||
|
0.882 | 0.200 | X | 67711621 | missense variant | T/A | snv |
|
0.010 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 |
|
0.020 | 0.500 | 2 | 2009 | 2018 | |||||||
|
0.882 | 0.160 | 9 | 133255935 | missense variant | G/A;T | snv | 4.1E-06; 0.12 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.040 | 19 | 53894400 | intron variant | C/G | snv | 0.44 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.732 | 0.160 | 10 | 43113649 | missense variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.763 | 0.320 | 12 | 122172836 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.925 | 0.080 | 14 | 59369257 | 3 prime UTR variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.732 | 0.320 | 2 | 136115340 | synonymous variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 |