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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.120 | 22 | 50627165 | splice donor variant | C/T | snv | 6.5E-04 | 4.5E-04 | 0.700 | 1.000 | 15 | 1991 | 2016 | |||
|
2 | 0.882 | 0.120 | 22 | 50626618 | missense variant | G/A | snv | 1.4E-05 | 0.700 | 1.000 | 11 | 1990 | 2016 | ||||
|
2 | 0.925 | 0.120 | 22 | 50627329 | missense variant | C/A;T | snv | 1.5E-05; 1.5E-05 | 0.720 | 0.909 | 10 | 1991 | 2018 | ||||
|
3 | 0.851 | 0.160 | 22 | 50626976 | missense variant | A/C | snv | 2.3E-04 | 2.8E-04 | 0.740 | 1.000 | 10 | 1991 | 2016 | |||
|
1 | 0.925 | 0.120 | 22 | 50626676 | missense variant | C/G;T | snv | 1.2E-05; 8.0E-06 | 0.710 | 1.000 | 10 | 1992 | 2015 | ||||
|
1 | 1.000 | 0.120 | 22 | 50626265 | missense variant | G/A | snv | 8.1E-06 | 7.0E-06 | 0.700 | 1.000 | 9 | 1994 | 2016 | |||
|
1 | 1.000 | 0.120 | 22 | 50626264 | missense variant | C/T | snv | 1.2E-04 | 1.0E-04 | 0.700 | 1.000 | 8 | 1994 | 2016 | |||
|
3 | 0.827 | 0.160 | 22 | 50625392 | missense variant | G/A | snv | 3.9E-04 | 3.6E-04 | 0.750 | 1.000 | 8 | 1991 | 2016 | |||
|
1 | 1.000 | 0.120 | 22 | 50626709 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 8 | 1994 | 2013 | |||
|
2 | 0.925 | 0.120 | 22 | 50627374 | missense variant | C/A;T | snv | 7.1E-05 | 4.2E-05 | 0.710 | 1.000 | 7 | 1992 | 2016 | |||
|
2 | 0.925 | 0.120 | 22 | 50625639 | missense variant | C/T | snv | 1.6E-05 | 1.4E-05 | 0.700 | 1.000 | 7 | 1993 | 2016 | |||
|
1 | 1.000 | 0.120 | 22 | 50627375 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 6 | 1999 | 2016 | ||||
|
2 | 0.925 | 0.120 | 22 | 50627338 | missense variant | G/A | snv | 3.4E-05 | 3.5E-05 | 0.700 | 1.000 | 6 | 1991 | 2013 | |||
|
1 | 1.000 | 0.120 | 22 | 50626877 | missense variant | G/A;T | snv | 2.0E-05; 8.0E-06 | 0.700 | 1.000 | 6 | 1993 | 2016 | ||||
|
3 | 0.851 | 0.120 | 22 | 50626033 | missense variant | T/A | snv | 3.4E-05 | 6.3E-05 | 0.700 | 1.000 | 6 | 1994 | 2014 | |||
|
1 | 1.000 | 0.120 | 22 | 50626195 | missense variant | C/T | snv | 8.3E-06 | 0.800 | 1.000 | 5 | 1995 | 2017 | ||||
|
1 | 1.000 | 0.120 | 22 | 50626699 | missense variant | A/G | snv | 1.2E-05 | 0.710 | 1.000 | 5 | 2003 | 2015 | ||||
|
2 | 0.925 | 0.120 | 22 | 50626202 | missense variant | C/A;T | snv | 2.9E-05 | 0.800 | 1.000 | 5 | 1993 | 2016 | ||||
|
2 | 0.925 | 0.120 | 22 | 50625675 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 5 | 1995 | 2008 | ||||
|
1 | 1.000 | 0.120 | 22 | 50625615 | missense variant | G/A;C | snv | 1.6E-05; 4.0E-06 | 0.800 | 1.000 | 5 | 1995 | 2011 | ||||
|
1 | 1.000 | 0.120 | 22 | 50625444 | inframe deletion | GTATCACTG/- | delins | 0.700 | 1.000 | 5 | 1998 | 2013 | |||||
|
1 | 1.000 | 0.120 | 22 | 50626154 | missense variant | C/T | snv | 1.3E-05 | 2.1E-05 | 0.800 | 1.000 | 4 | 2003 | 2017 | |||
|
1 | 1.000 | 0.120 | 22 | 50626708 | missense variant | C/T | snv | 1.2E-05 | 0.800 | 1.000 | 4 | 1997 | 2016 | ||||
|
2 | 0.925 | 0.120 | 22 | 50626706 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 0.800 | 1.000 | 4 | 1993 | 2017 | |||
|
1 | 1.000 | 0.120 | 22 | 50625183 | frameshift variant | GGG/-;GG;GGGG;GGGGGGG | delins | 0.700 | 1.000 | 4 | 2003 | 2013 |