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 | 30767328 | intron variant | A/G | snv | 0.13 |
|
0.700 | 1.000 | 2 | 2007 | 2009 | ||||||||
|
1.000 | 0.120 | 6 | 30914857 | synonymous variant | C/T | snv | 0.32 | 0.28 |
|
0.700 | 1.000 | 2 | 2007 | 2009 | |||||||
|
1.000 | 0.120 | 6 | 30914736 | 5 prime UTR variant | A/G | snv | 0.28 |
|
0.700 | 1.000 | 2 | 2007 | 2009 | ||||||||
|
1.000 | 0.120 | 6 | 30876537 | 5 prime UTR variant | T/C | snv | 0.28 |
|
0.700 | 1.000 | 2 | 2007 | 2009 | ||||||||
|
1.000 | 0.120 | 6 | 30832800 | upstream gene variant | C/T | snv | 0.40 |
|
0.700 | 1.000 | 2 | 2007 | 2009 | ||||||||
|
1.000 | 0.120 | 6 | 30594244 | intron variant | G/A | snv | 0.74 |
|
0.700 | 1.000 | 2 | 2007 | 2009 | ||||||||
|
1.000 | 0.120 | 6 | 31151645 | intron variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 2 | 2007 | 2009 | ||||||||
|
1.000 | 0.120 | 16 | 85985481 | upstream gene variant | T/A | snv | 0.24 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | ||||||||
|
1.000 | 0.120 | 6 | 167127354 | intron variant | C/T | snv | 0.61 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | ||||||||
|
1.000 | 0.120 | 6 | 29861139 | intron variant | C/T | snv | 0.45 |
|
0.700 | 1.000 | 2 | 2007 | 2009 | ||||||||
|
1.000 | 0.120 | 6 | 29863231 | intron variant | C/T | snv | 0.45 |
|
0.700 | 1.000 | 2 | 2007 | 2009 | ||||||||
|
1.000 | 0.120 | 6 | 33001680 | downstream gene variant | C/T | snv | 0.37 |
|
0.700 | 1.000 | 2 | 2007 | 2009 | ||||||||
|
1.000 | 0.120 | 6 | 32946836 | intron variant | C/T | snv | 0.30 |
|
0.700 | 1.000 | 2 | 2007 | 2009 | ||||||||
|
1.000 | 0.120 | 9 | 120878222 | intron variant | T/C | snv | 0.68 |
|
0.710 | 1.000 | 2 | 2007 | 2009 | ||||||||
|
1.000 | 0.120 | 6 | 31139956 | 3 prime UTR variant | C/T | snv | 0.23 | 0.21 |
|
0.700 | 1.000 | 2 | 2007 | 2009 | |||||||
|
1.000 | 0.120 | 6 | 30153683 | 3 prime UTR variant | C/T | snv | 0.30 | 0.27 |
|
0.700 | 1.000 | 2 | 2007 | 2009 | |||||||
|
0.925 | 0.120 | 6 | 32187221 | non coding transcript exon variant | C/T | snv | 0.18 | 0.21 |
|
0.700 | 1.000 | 2 | 2007 | 2011 | |||||||
|
1.000 | 0.120 | 6 | 32371299 | intron variant | A/G | snv | 0.35 |
|
0.700 | 1.000 | 2 | 2007 | 2009 | ||||||||
|
1.000 | 0.120 | 6 | 31538914 | missense variant | G/A | snv | 0.20 | 0.22 |
|
0.700 | 1.000 | 2 | 2007 | 2009 | |||||||
|
1.000 | 0.120 | 6 | 32746366 | missense variant | G/A | snv | 6.1E-02 | 5.5E-02 |
|
0.700 | 1.000 | 2 | 2007 | 2011 | |||||||
|
1.000 | 0.120 | 6 | 30922706 | missense variant | G/T | snv | 0.32 | 0.28 |
|
0.700 | 1.000 | 2 | 2007 | 2009 | |||||||
|
1.000 | 0.120 | 6 | 33363204 | downstream gene variant | A/G | snv | 0.34 |
|
0.700 | 1.000 | 2 | 2007 | 2009 | ||||||||
|
1.000 | 0.120 | 6 | 33267978 | synonymous variant | G/A | snv | 0.39 | 0.40 |
|
0.700 | 1.000 | 2 | 2007 | 2009 | |||||||
|
1.000 | 0.120 | 6 | 44265183 | missense variant | A/G | snv | 4.9E-02 | 5.1E-02 |
|
0.810 | 1.000 | 2 | 2012 | 2016 | |||||||
|
1.000 | 0.120 | 1 | 17348042 | synonymous variant | C/A | snv | 0.39 | 0.37 |
|
0.810 | 1.000 | 2 | 2011 | 2019 |