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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 |
|
0.820 | 1.000 | 2 | 2009 | 2018 | ||||||||
|
1.000 | 0.120 | 11 | 2172610 | upstream gene variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
1.000 | 0.120 | 6 | 32754409 | upstream gene variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
1.000 | 0.120 | 10 | 6430929 | missense variant | G/C;T | snv | 4.0E-06; 0.17 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.882 | 0.240 | 6 | 32096949 | missense variant | T/C;G | snv | 5.9E-02 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.851 | 0.200 | 6 | 32082981 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.925 | 0.160 | 2 | 203866366 | upstream gene variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 0.120 | 6 | 32353820 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.925 | 0.200 | 6 | 32772111 | intergenic variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
1.000 | 0.120 | 6 | 32697982 | intergenic variant | -/TTCGTC;TTCGTCAGAC | delins |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.925 | 0.200 | 6 | 32913216 | regulatory region variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
1.000 | 0.120 | 6 | 32763481 | 5 prime UTR variant | G/A;C | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.120 | 17 | 7730374 | intron variant | C/A;T | snv |
|
0.800 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.851 | 0.200 | 6 | 32082290 | missense variant | T/A;C;G | snv | 8.2E-06; 0.58; 4.1E-06 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.925 | 0.120 | 6 | 32819279 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.851 | 0.280 | 16 | 11080795 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.851 | 0.280 | 6 | 32193653 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.925 | 0.200 | 6 | 32817006 | intron variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.925 | 0.200 | 6 | 32816899 | missense variant | C/A;T | snv | 4.1E-06; 6.2E-02 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.752 | 0.400 | 6 | 31810495 | missense variant | G/A;C;T | snv | 0.87 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.851 | 0.240 | 6 | 32443746 | intron variant | T/A;C | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.882 | 0.200 | 6 | 31470591 | non coding transcript exon variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.925 | 0.200 | 6 | 31587353 | non coding transcript exon variant | A/G;T | snv | 0.60 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.925 | 0.160 | 20 | 1629905 | intron variant | T/A;C | snv |
|
0.820 | 1.000 | 1 | 2009 | 2019 | |||||||||
|
1.000 | 0.120 | 22 | 37185382 | missense variant | G/C;T | snv | 0.19; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2011 | 2011 |