| 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 | 0.120 | 6 | 29950322 | downstream gene variant | G/A;T | snv |
|
0.710 | 1.000 | 3 | 2009 | 2015 | |||||||||
|
0.807 | 0.440 | 6 | 29608616 | missense variant | A/C;G | snv | 4.1E-06; 0.18 |
|
0.700 | 1.000 | 2 | 2010 | 2012 | ||||||||
|
1.000 | 0.120 | 16 | 83940313 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.827 | 0.160 | 1 | 121538815 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.716 | 0.320 | 10 | 121586676 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.827 | 0.280 | 2 | 230226508 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.851 | 0.240 | 12 | 88592239 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.807 | 0.240 | 17 | 50196930 | intron variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.925 | 0.240 | 6 | 29603768 | intron variant | A/C;G | snv | 3.1E-05; 0.13 |
|
0.710 | 1.000 | 1 | 2010 | 2017 | ||||||||
|
0.925 | 0.120 | 16 | 89689495 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.827 | 0.160 | 19 | 50861367 | upstream gene variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.667 | 0.560 | 5 | 1288432 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
1.000 | 0.120 | 6 | 29938914 | upstream gene variant | A/C;G;T | snv |
|
0.720 | 1.000 | 1 | 2010 | 2017 | |||||||||
|
1.000 | 0.120 | 6 | 29952759 | upstream gene variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.851 | 0.280 | 16 | 85942053 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
1.000 | 0.120 | 6 | 29639269 | upstream gene variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.882 | 0.200 | 1 | 200038304 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.763 | 0.240 | 8 | 127505328 | intergenic variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.882 | 0.160 | 8 | 127310936 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.925 | 0.120 | 16 | 90000528 | non coding transcript exon variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.708 | 0.160 | 18 | 48927093 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.776 | 0.240 | 11 | 118606652 | 5 prime UTR variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.689 | 0.520 | 9 | 133273813 | intron variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 |