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 | 0.080 | 6 | 33069898 | intron variant | C/A | snv | 0.23 | 0.32 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.080 | 7 | 32780825 | intergenic variant | A/G | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.120 | 7 | 90689160 | intron variant | G/C | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 6 | 33080909 | missense variant | G/A;T | snv | 0.31; 1.4E-02 |
|
0.710 | 1.000 | 2 | 2013 | 2019 | ||||||||
|
1.000 | 0.080 | 6 | 33069222 | missense variant | T/C | snv | 0.24 | 0.28 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.200 | 6 | 33086680 | 3 prime UTR variant | A/G | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 6 | 33091175 | downstream gene variant | G/A | snv | 5.9E-02 |
|
0.700 | 1.000 | 2 | 2009 | 2011 | ||||||||
|
1.000 | 0.080 | 22 | 21568167 | non coding transcript exon variant | C/G | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.120 | 6 | 30103160 | 3 prime UTR variant | C/T | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 6 | 33069647 | missense variant | T/A;C;G | snv | 0.24 | 0.28 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.080 | 6 | 33068658 | missense variant | T/G | snv | 0.24 | 0.29 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.080 | 15 | 90302268 | intron variant | G/T | snv | 9.9E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.120 | 6 | 32701596 | downstream gene variant | C/T | snv | 2.3E-02 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.120 | 16 | 9768699 | intron variant | G/T | snv | 0.38 |
|
0.810 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 22 | 21587626 | intron variant | C/T | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.080 | 4 | 100975519 | regulatory region variant | T/C | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 6 | 31149298 | non coding transcript exon variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.851 | 0.240 | 6 | 32193547 | intron variant | T/C | snv | 6.1E-02 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.200 | 6 | 32737499 | upstream gene variant | C/T | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 6 | 33071909 | intron variant | T/C | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.200 | 6 | 32772111 | intergenic variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.851 | 0.280 | 6 | 31162816 | 3 prime UTR variant | G/A | snv | 0.50 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 6 | 33073257 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 2 | 2011 | 2013 | |||||||||
|
1.000 | 0.080 | 6 | 33073399 | intron variant | C/T | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2013 | 2013 |