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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 17 | 7689284 | missense variant | C/A | snv |
|
0.800 | 1.000 | 2 | 2011 | 2011 | |||||||||
|
1.000 | 0.120 | 17 | 7689255 | stop gained | C/G;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.120 | 17 | 7689462 | intron variant | G/A | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.120 | 17 | 7689462 | intron variant | G/A | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.120 | 17 | 7689462 | intron variant | G/A | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.120 | 17 | 7689242 | synonymous variant | C/T | snv | 0.13 | 0.14 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.882 | 0.120 | 17 | 7689242 | synonymous variant | C/T | snv | 0.13 | 0.14 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.882 | 0.120 | 17 | 7689242 | synonymous variant | C/T | snv | 0.13 | 0.14 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.882 | 0.120 | 17 | 7689242 | synonymous variant | C/T | snv | 0.13 | 0.14 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.080 | 17 | 7688850 | missense variant | C/G;T | snv | 0.20 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.080 | 17 | 7688850 | missense variant | C/G;T | snv | 0.20 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 17 | 7688850 | missense variant | C/G;T | snv | 0.20 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.080 | 17 | 7688850 | missense variant | C/G;T | snv | 0.20 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.851 | 0.080 | 17 | 7685993 | non coding transcript exon variant | G/C | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.080 | 17 | 7685993 | non coding transcript exon variant | G/C | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.080 | 17 | 7685993 | non coding transcript exon variant | G/C | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.851 | 0.080 | 17 | 7685993 | non coding transcript exon variant | G/C | snv | 0.32 |
|
0.010 | < 0.001 | 1 | 2004 | 2004 | ||||||||
|
0.925 | 0.120 | 17 | 7689284 | missense variant | C/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.641 | 0.400 | 17 | 7674230 | missense variant | C/A;G;T | snv |
|
0.810 | 1.000 | 52 | 1990 | 2017 | |||||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.100 | 0.833 | 48 | 2003 | 2020 | ||||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.100 | 0.833 | 48 | 2003 | 2020 | ||||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.100 | 0.933 | 45 | 2002 | 2019 | ||||||||
|
0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 |
|
0.900 | 0.977 | 44 | 1990 | 2020 | ||||||||
|
0.645 | 0.360 | 17 | 7674872 | missense variant | T/C;G | snv | 8.0E-06 |
|
0.820 | 1.000 | 43 | 1990 | 2018 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.100 | 0.833 | 42 | 2003 | 2018 |