| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.020 | 1.000 | 2 | 2012 | 2017 | ||||||||
|
1.000 | 0.160 | 3 | 3149742 | non coding transcript exon variant | T/C | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 |
|
0.060 | 0.833 | 6 | 2009 | 2019 | ||||||||
|
0.925 | 0.200 | 6 | 30897052 | synonymous variant | T/C | snv | 0.47 | 0.43 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.160 | 6 | 30899750 | 3 prime UTR variant | G/A | snv | 7.6E-02 |
|
0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.160 | 3 | 41883906 | missense variant | C/G;T | snv | 0.80 |
|
0.810 | 1.000 | 1 | 2011 | 2014 | ||||||||
|
0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.160 | 7 | 140753355 | missense variant | CA/TC | mnv |
|
0.010 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.637 | 0.600 | 3 | 169774313 | synonymous variant | C/T | snv | 0.29 | 0.21 |
|
0.810 | 1.000 | 1 | 2013 | 2014 | |||||||
|
1.000 | 0.160 | 12 | 6789226 | intron variant | A/G | snv | 0.14 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 |
|
0.020 | 1.000 | 2 | 2011 | 2017 | |||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.020 | 1.000 | 2 | 2012 | 2017 | |||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.770 | 0.875 | 7 | 2003 | 2019 | ||||||||
|
0.851 | 0.240 | 14 | 102799329 | intron variant | G/A | snv | 0.23 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.070 | 1.000 | 7 | 2000 | 2019 | |||||||
|
0.827 | 0.280 | 8 | 38419696 | missense variant | T/C | snv |
|
0.010 | < 0.001 | 1 | 2006 | 2006 | |||||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.070 | 0.857 | 7 | 2003 | 2019 | |||||||||
|
0.708 | 0.640 | 10 | 121515280 | missense variant | T/C | snv |
|
0.010 | < 0.001 | 1 | 2006 | 2006 | |||||||||
|
0.716 | 0.400 | 4 | 1804372 | missense variant | A/G | snv |
|
0.040 | 0.750 | 4 | 2001 | 2011 | |||||||||
|
0.649 | 0.320 | 6 | 396321 | intron variant | C/T | snv | 0.10 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.160 | 6 | 151208234 | intron variant | A/G | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.160 | 12 | 9984989 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 0.160 | 2 | 201185809 | missense variant | G/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.630 | 0.600 | 16 | 69711128 | missense variant | G/A | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.790 | 0.280 | 2 | 172446825 | intron variant | A/G | snv | 4.9E-02 |
|
0.010 | 1.000 | 1 | 2011 | 2011 |