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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 |
|
1.000 | 0.877 | 8 | 2005 | 2019 | |||||||
|
0.724 | 0.640 | 6 | 32396039 | missense variant | T/C | snv | 0.42 | 0.40 |
|
0.710 | 1.000 | 3 | 2005 | 2011 | |||||||
|
0.742 | 0.440 | 6 | 137685367 | intron variant | G/A | snv | 0.16 |
|
0.900 | 0.938 | 5 | 2007 | 2019 | ||||||||
|
0.882 | 0.240 | 6 | 32437082 | upstream gene variant | A/G | snv | 0.62 |
|
0.700 | 1.000 | 4 | 2007 | 2011 | ||||||||
|
0.742 | 0.400 | 6 | 32602623 | intergenic variant | T/C | snv | 0.27 |
|
0.700 | 1.000 | 4 | 2007 | 2011 | ||||||||
|
0.827 | 0.200 | 9 | 120927961 | intron variant | G/A | snv | 0.52 |
|
0.870 | 0.909 | 4 | 2007 | 2015 | ||||||||
|
0.763 | 0.480 | 6 | 32696074 | intergenic variant | C/A;T | snv |
|
0.820 | 1.000 | 4 | 2007 | 2018 | |||||||||
|
0.790 | 0.320 | 6 | 32315077 | intron variant | A/G | snv | 0.14 |
|
0.810 | 1.000 | 4 | 2007 | 2016 | ||||||||
|
1.000 | 0.120 | 6 | 32366178 | missense variant | T/C | snv | 0.42 | 0.33 |
|
0.700 | 1.000 | 4 | 2007 | 2011 | |||||||
|
1.000 | 0.120 | 6 | 32368809 | missense variant | A/G | snv | 0.41 | 0.33 |
|
0.700 | 1.000 | 4 | 2007 | 2011 | |||||||
|
0.882 | 0.200 | 6 | 32332045 | stop gained | G/A | snv | 0.19 | 0.23 |
|
0.700 | 1.000 | 3 | 2007 | 2011 | |||||||
|
1.000 | 0.120 | 6 | 32339605 | missense variant | G/A | snv | 0.40 | 0.33 |
|
0.700 | 1.000 | 3 | 2007 | 2011 | |||||||
|
0.925 | 0.160 | 6 | 31937353 | synonymous variant | G/A | snv | 9.7E-02 | 0.12 |
|
0.700 | 1.000 | 3 | 2007 | 2011 | |||||||
|
0.925 | 0.200 | 6 | 32827255 | 3 prime UTR variant | G/A | snv | 6.1E-02 |
|
0.800 | 1.000 | 3 | 2007 | 2016 | ||||||||
|
0.807 | 0.320 | 6 | 32698749 | intergenic variant | C/T | snv | 6.4E-02 |
|
0.700 | 1.000 | 3 | 2007 | 2011 | ||||||||
|
0.776 | 0.400 | 6 | 32395438 | intron variant | T/C | snv | 0.13 |
|
0.700 | 1.000 | 3 | 2007 | 2011 | ||||||||
|
0.925 | 0.200 | 6 | 32214982 | intron variant | G/A | snv | 0.15 |
|
0.700 | 1.000 | 3 | 2007 | 2011 | ||||||||
|
0.925 | 0.120 | 6 | 32070923 | intron variant | C/T | snv | 0.25 |
|
0.700 | 1.000 | 3 | 2007 | 2011 | ||||||||
|
0.925 | 0.200 | 6 | 32816899 | missense variant | C/A;T | snv | 4.1E-06; 6.2E-02 |
|
0.700 | 1.000 | 3 | 2007 | 2011 | ||||||||
|
0.807 | 0.320 | 6 | 31951801 | 3 prime UTR variant | A/G | snv | 0.59 |
|
0.700 | 1.000 | 3 | 2007 | 2011 | ||||||||
|
0.925 | 0.160 | 6 | 31272654 | intron variant | G/T | snv | 0.13 |
|
0.700 | 1.000 | 3 | 2007 | 2011 | ||||||||
|
0.776 | 0.440 | 6 | 31810169 | missense variant | C/T | snv | 0.32 | 0.25 |
|
0.700 | 1.000 | 3 | 2007 | 2011 | |||||||
|
0.925 | 0.200 | 6 | 32349858 | non coding transcript exon variant | G/A | snv | 0.37 | 0.42 |
|
0.700 | 1.000 | 3 | 2007 | 2011 | |||||||
|
0.701 | 0.480 | 6 | 32638107 | intron variant | C/T | snv | 3.3E-03 |
|
0.700 | 1.000 | 3 | 2007 | 2011 | ||||||||
|
0.925 | 0.120 | 6 | 32062507 | intron variant | G/A | snv | 0.33 | 0.25 |
|
0.700 | 1.000 | 3 | 2007 | 2011 |