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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.695 | 0.440 | 15 | 78513681 | intron variant | T/C | snv | 0.27 |
|
0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||||
|
0.695 | 0.280 | 17 | 78214286 | 5 prime UTR variant | G/A;C;T | snv | 0.38; 4.8E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.200 | 13 | 77901095 | missense variant | C/T | snv | 1.0E-02 | 1.1E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.030 | 0.667 | 3 | 2010 | 2011 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.020 | 0.500 | 2 | 2011 | 2011 | |||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.020 | 0.500 | 2 | 2011 | 2011 | |||||||||
|
0.614 | 0.320 | 17 | 7675151 | missense variant | C/A;T | snv | 8.0E-06 |
|
0.040 | 1.000 | 4 | 2004 | 2019 | ||||||||
|
0.716 | 0.120 | 17 | 7675097 | missense variant | A/C;G | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.645 | 0.360 | 17 | 7674872 | missense variant | T/C;G | snv | 8.0E-06 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.605 | 0.680 | 17 | 7674221 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2004 | 2008 | ||||||||
|
0.776 | 0.280 | 17 | 7674109 | intron variant | G/A | snv | 0.10 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.611 | 0.520 | 17 | 7673803 | missense variant | G/A;C;T | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.882 | 0.200 | 17 | 7673603 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.925 | 0.120 | 17 | 7668783 | 3 prime UTR variant | C/T | snv | 5.1E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.240 | 8 | 75558169 | intron variant | G/A | snv | 0.65 |
|
0.010 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.120 | 2 | 74889400 | missense variant | G/A | snv | 6.0E-02 | 0.18 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.120 | 1 | 74723233 | missense variant | A/G | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.120 | 3 | 74669607 | intergenic variant | T/A;C;G | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.882 | 0.200 | 13 | 73342491 | regulatory region variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.925 | 0.120 | 13 | 73334709 | regulatory region variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.851 | 0.120 | 13 | 73322084 | intergenic variant | A/G | snv | 0.52 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.724 | 0.280 | 17 | 72404025 | non coding transcript exon variant | C/T | snv | 0.16 |
|
0.020 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 11 | 7235910 | upstream gene variant | C/T | snv | 2.7E-02 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.645 | 0.480 | 4 | 71742666 | intron variant | T/G | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.672 | 0.560 | 3 | 69964940 | missense variant | G/A | snv | 1.4E-03 | 1.6E-03 |
|
0.010 | < 0.001 | 1 | 2014 | 2014 |