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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 | 68292297 | non coding transcript exon variant | A/C | snv | 0.80 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
8 | 144084619 | intron variant | C/G | snv | 8.1E-02 | 0.14 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
6 | 160143444 | intron variant | C/G | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
16 | 15036113 | synonymous variant | A/G | snv | 0.35 | 0.30 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
6 | 111425880 | intron variant | G/C | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
4 | 158709665 | 3 prime UTR variant | T/C | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1 | 46938514 | intron variant | T/C | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
6 | 11042676 | intron variant | G/A | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 |
|
0.800 | 1.000 | 1 | 2009 | 2018 | |||||||
|
0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 |
|
0.800 | 1.000 | 1 | 2011 | 2018 | ||||||||
|
0.742 | 0.240 | 11 | 61803311 | intron variant | T/C | snv | 0.28 |
|
0.800 | 1.000 | 1 | 2011 | 2016 | ||||||||
|
0.763 | 0.280 | 2 | 233759924 | intron variant | C/T | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.807 | 0.240 | 1 | 159709026 | upstream gene variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.827 | 0.120 | 2 | 168906638 | intron variant | T/C | snv | 0.79 | 0.80 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.851 | 0.200 | 12 | 120951159 | intron variant | A/C | snv | 0.70 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.120 | 4 | 9954455 | intron variant | C/T | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.120 | 2 | 21014672 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.925 | 0.120 | 10 | 59689806 | intron variant | A/G | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 8 | 19973410 | regulatory region variant | C/T | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.080 | 7 | 15024208 | intergenic variant | T/A;G | snv |
|
0.800 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.080 | 12 | 56471554 | missense variant | A/G | snv | 0.17 | 0.15 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 12 | 21225087 | intron variant | G/A | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 10 | 100315722 | intron variant | G/A | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2011 | 2011 |