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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.160 | 15 | 48432947 | stop gained | G/A | snv |
|
0.700 | 1.000 | 29 | 1986 | 2016 | |||||||||
|
0.882 | 0.160 | 15 | 48432947 | stop gained | G/A | snv |
|
0.700 | 1.000 | 29 | 1986 | 2016 | |||||||||
|
0.882 | 0.160 | 15 | 48432947 | stop gained | G/A | snv |
|
0.700 | 1.000 | 29 | 1986 | 2016 | |||||||||
|
1.000 | 15 | 48412588 | frameshift variant | -/T | delins |
|
0.700 | 1.000 | 29 | 1986 | 2016 | ||||||||||
|
0.882 | 0.120 | 15 | 48460258 | missense variant | C/T | snv |
|
0.700 | 1.000 | 29 | 1986 | 2016 | |||||||||
|
0.882 | 0.120 | 15 | 48460258 | missense variant | C/T | snv |
|
0.700 | 1.000 | 29 | 1986 | 2016 | |||||||||
|
0.925 | 0.160 | 15 | 48432911 | missense variant | A/G | snv |
|
0.700 | 1.000 | 29 | 1986 | 2016 | |||||||||
|
0.925 | 0.160 | 15 | 48432911 | missense variant | A/G | snv |
|
0.700 | 1.000 | 29 | 1986 | 2016 | |||||||||
|
0.925 | 0.160 | 15 | 48432911 | missense variant | A/G | snv |
|
0.700 | 1.000 | 29 | 1986 | 2016 | |||||||||
|
0.708 | 0.280 | 15 | 48505106 | missense variant | G/A | snv | 7.0E-06 |
|
0.700 | 1.000 | 16 | 1973 | 2015 | ||||||||
|
0.732 | 0.200 | 15 | 48420752 | missense variant | A/G;T | snv | 1.6E-05 |
|
0.700 | 1.000 | 14 | 1999 | 2016 | ||||||||
|
0.763 | 0.280 | 15 | 48446701 | splice region variant | C/A;T | snv |
|
0.700 | 1.000 | 13 | 1995 | 2014 | |||||||||
|
0.708 | 0.280 | 15 | 48505106 | missense variant | G/A | snv | 7.0E-06 |
|
0.700 | 1.000 | 13 | 1973 | 2015 | ||||||||
|
0.763 | 0.200 | 15 | 48468097 | missense variant | G/A | snv |
|
0.700 | 1.000 | 12 | 2000 | 2016 | |||||||||
|
0.925 | 0.160 | 15 | 48444648 | missense variant | C/T | snv |
|
0.700 | 1.000 | 11 | 1973 | 2008 | |||||||||
|
0.925 | 0.160 | 15 | 48444648 | missense variant | C/T | snv |
|
0.700 | 1.000 | 11 | 1973 | 2008 | |||||||||
|
0.925 | 0.160 | 15 | 48508660 | missense variant | A/C | snv |
|
0.700 | 1.000 | 10 | 1973 | 2015 | |||||||||
|
0.925 | 0.160 | 15 | 48508660 | missense variant | A/C | snv |
|
0.700 | 1.000 | 10 | 1973 | 2015 | |||||||||
|
0.925 | 0.160 | 15 | 48600195 | missense variant | C/T | snv |
|
0.700 | 1.000 | 10 | 1973 | 2012 | |||||||||
|
0.925 | 0.160 | 15 | 48600195 | missense variant | C/T | snv |
|
0.700 | 1.000 | 10 | 1973 | 2012 | |||||||||
|
0.763 | 0.200 | 15 | 48430736 | missense variant | A/G | snv | 7.0E-06 |
|
0.700 | 1.000 | 10 | 1999 | 2016 | ||||||||
|
0.925 | 0.160 | 15 | 48488412 | missense variant | C/T | snv |
|
0.700 | 1.000 | 10 | 1973 | 2007 | |||||||||
|
0.925 | 0.160 | 15 | 48488412 | missense variant | C/T | snv |
|
0.700 | 1.000 | 10 | 1973 | 2007 | |||||||||
|
0.925 | 0.160 | 15 | 48497316 | missense variant | C/T | snv |
|
0.700 | 1.000 | 9 | 2002 | 2018 | |||||||||
|
0.925 | 0.160 | 15 | 48497316 | missense variant | C/T | snv |
|
0.700 | 1.000 | 9 | 2002 | 2018 |