Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.851 | 0.120 | 17 | 70175263 | missense variant | C/G;T | snv | 0.810 | 1.000 | 11 | 2001 | 2015 | |||||
|
1 | 1.000 | 0.120 | 17 | 70175251 | missense variant | A/T | snv | 0.810 | 1.000 | 6 | 2001 | 2018 | |||||
|
6 | 0.807 | 0.280 | 17 | 70175691 | missense variant | C/T | snv | 0.800 | 1.000 | 16 | 2001 | 2014 | |||||
|
7 | 0.790 | 0.240 | 17 | 70175238 | missense variant | C/A;T | snv | 4.0E-06 | 0.800 | 1.000 | 12 | 2001 | 2013 | ||||
|
1 | 1.000 | 0.120 | 17 | 70175938 | missense variant | G/A;C;T | snv | 0.800 | 1.000 | 7 | 2001 | 2010 | |||||
|
2 | 1.000 | 0.120 | 17 | 70175952 | missense variant | A/C;G | snv | 0.800 | 1.000 | 6 | 2001 | 2010 | |||||
|
1 | 1.000 | 0.120 | 17 | 70175200 | missense variant | G/T | snv | 0.800 | 1.000 | 6 | 2001 | 2010 | |||||
|
1 | 1.000 | 0.120 | 17 | 70175596 | missense variant | C/T | snv | 0.800 | 1.000 | 5 | 2001 | 2007 | |||||
|
1 | 1.000 | 0.120 | 17 | 70175943 | missense variant | G/A | snv | 0.800 | 1.000 | 5 | 2001 | 2007 | |||||
|
1 | 1.000 | 0.120 | 17 | 70175685 | missense variant | A/C | snv | 0.800 | 1.000 | 5 | 2001 | 2007 | |||||
|
2 | 0.925 | 0.120 | 17 | 70175470 | missense variant | G/A;C | snv | 0.720 | 1.000 | 10 | 2001 | 2019 | |||||
|
2 | 0.925 | 0.120 | 17 | 70175692 | missense variant | G/A;C;T | snv | 0.710 | 1.000 | 5 | 2001 | 2007 | |||||
|
3 | 0.882 | 0.120 | 17 | 70175283 | missense variant | C/T | snv | 0.700 | 1.000 | 6 | 2005 | 2013 | |||||
|
2 | 0.925 | 0.120 | 17 | 70175284 | missense variant | G/A | snv | 0.700 | 1.000 | 4 | 2005 | 2017 | |||||
|
2 | 0.925 | 0.120 | 17 | 70176140 | frameshift variant | C/- | delins | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.882 | 0.120 | 11 | 128916630 | missense variant | G/C | snv | 1.7E-04 | 7.7E-05 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||
|
5 | 0.827 | 0.200 | 11 | 128911745 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.120 | 17 | 70175306 | inframe deletion | GCTTTCGTCCTG/- | delins | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.120 | 17 | 70176005 | missense variant | G/C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.120 | 17 | 70175721 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 17 | 70175754 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 70175250 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 70175272 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 70175500 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 70175683 | missense variant | G/A | snv | 0.700 | 0 |