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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 19 | 35648270 | upstream gene variant | G/A | snv | 9.7E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.790 | 0.200 | 19 | 48703374 | missense variant | A/T | snv | 3.6E-02 | 1.2E-02 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.882 | 0.040 | 19 | 47004177 | 3 prime UTR variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.807 | 0.080 | 19 | 1206957 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.925 | 0.080 | 19 | 50858501 | missense variant | T/C | snv | 5.5E-02 | 4.9E-02 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.547 | 0.760 | 19 | 41354391 | intron variant | A/G | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 19 | 45409148 | missense variant | G/A | snv | 0.21 | 0.19 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.620 | 0.400 | 19 | 45409478 | stop gained | C/A;G;T | snv | 0.29; 4.3E-06; 4.3E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.742 | 0.240 | 19 | 43575535 | 5 prime UTR variant | G/A | snv | 0.65 | 0.60 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.807 | 0.240 | 19 | 7668969 | upstream gene variant | G/A | snv | 5.0E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 19 | 35647577 | upstream gene variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.742 | 0.160 | 19 | 45408744 | missense variant | A/C | snv | 0.21 | 0.20 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.851 | 0.040 | 19 | 53894400 | intron variant | C/G | snv | 0.44 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
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 | |||||||
|
0.882 | 0.120 | 18 | 24477006 | missense variant | A/G | snv | 8.6E-02 | 7.6E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.742 | 0.320 | 18 | 52906232 | missense variant | C/A;G | snv | 0.45 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.614 | 0.320 | 17 | 7675151 | missense variant | C/A;T | snv | 8.0E-06 |
|
0.040 | 1.000 | 4 | 2010 | 2015 | ||||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.030 | 1.000 | 3 | 2010 | 2014 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.020 | 1.000 | 2 | 2010 | 2014 | |||||||||
|
0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 |
|
0.020 | 1.000 | 2 | 2001 | 2011 | ||||||||
|
0.790 | 0.120 | 17 | 51161744 | missense variant | A/G | snv | 6.0E-05 | 7.0E-05 |
|
0.020 | 1.000 | 2 | 2001 | 2004 | |||||||
|
0.925 | 0.080 | 17 | 50072022 | synonymous variant | C/T | snv | 0.17 | 0.19 |
|
0.020 | 1.000 | 2 | 2011 | 2012 | |||||||
|
0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 |
|
0.020 | 1.000 | 2 | 2007 | 2017 | ||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.020 | 1.000 | 2 | 2010 | 2014 | |||||||||
|
0.882 | 0.120 | 17 | 36102943 | upstream gene variant | G/A | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2018 | 2018 |