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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.776 | 0.400 | 19 | 1106616 | stop gained | T/A;C | snv | 4.2E-06; 0.58 |
|
0.020 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
0.851 | 0.240 | 6 | 53545239 | intron variant | G/A;T | snv | 6.2E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.658 | 0.480 | 6 | 32184610 | upstream gene variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.851 | 0.160 | X | 32448630 | synonymous variant | T/C | snv | 5.7E-06 | 9.5E-06 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.120 | 1 | 78360228 | intron variant | C/T | snv | 0.92 |
|
0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||||
|
0.689 | 0.600 | 19 | 51693200 | non coding transcript exon variant | T/C | snv | 0.45 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.701 | 0.360 | 19 | 39241143 | upstream gene variant | A/G | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.611 | 0.600 | 10 | 44372809 | 3 prime UTR variant | C/T | snv | 0.16 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.562 | 0.760 | 6 | 31575324 | upstream gene variant | G/A | snv | 4.6E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
6 | 155812936 | intergenic variant | C/T | snv | 0.12 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
6 | 155812754 | intergenic variant | A/G | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
6 | 155817575 | regulatory region variant | T/C | snv | 0.12 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
6 | 101327270 | intron variant | A/G | snv | 0.62 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.882 | 0.120 | 6 | 38682852 | missense variant | T/A;G | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.708 | 0.400 | 6 | 38682852 | missense variant | T/A;G | snv | 0.36 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
6 | 44124392 | intron variant | T/G | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 |
|
0.010 | < 0.001 | 1 | 2012 | 2012 | ||||||||
|
0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 |
|
0.020 | 0.500 | 2 | 2010 | 2016 | ||||||||
|
0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 |
|
0.020 | 1.000 | 2 | 2009 | 2015 | ||||||||
|
0.672 | 0.360 | 6 | 149400554 | missense variant | G/A | snv | 0.55 | 0.57 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.658 | 0.560 | 7 | 24285260 | missense variant | T/A;C | snv | 4.0E-06; 3.0E-02 |
|
0.010 | 1.000 | 1 | 2007 | 2007 |