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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
21 | 0.732 | 0.160 | 4 | 89835580 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.925 | 0.040 | 17 | 7674900 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
19 | 0.695 | 0.400 | 2 | 138002079 | missense variant | C/T | snv | 1.0E-01 | 8.4E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
15 | 0.742 | 0.120 | 12 | 40363526 | missense variant | G/A | snv | 1.7E-03 | 5.8E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.925 | 0.040 | 17 | 7676182 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
8 | 0.827 | 0.040 | 16 | 56336744 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2017 | 2019 | |||||
|
59 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.030 | 1.000 | 3 | 2002 | 2006 | |||||
|
1 | 19 | 13286952 | frameshift variant | -/A | delins | 4.2E-06 | 0.700 | 1.000 | 46 | 1988 | 2017 | ||||||
|
2 | 2 | 25235768 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 36 | 1989 | 2018 | ||||||
|
3 | 1.000 | 0.040 | 20 | 63438654 | missense variant | T/C | snv | 0.700 | 1.000 | 29 | 1980 | 2017 | |||||
|
4 | 0.925 | 20 | 63445322 | missense variant | G/A;C | snv | 0.700 | 1.000 | 29 | 1980 | 2017 | ||||||
|
3 | 1.000 | 21 | 33554945 | frameshift variant | GAAA/- | delins | 0.700 | 1.000 | 28 | 1988 | 2016 | ||||||
|
4 | 1.000 | 21 | 33554005 | frameshift variant | ACTC/- | del | 0.700 | 1.000 | 28 | 1988 | 2016 | ||||||
|
5 | 0.925 | 0.040 | 1 | 110603893 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 28 | 1991 | 2017 | ||||
|
6 | 0.925 | 0.200 | 1 | 110603902 | missense variant | C/T | snv | 0.700 | 1.000 | 28 | 1991 | 2017 | |||||
|
12 | 0.776 | 0.280 | 19 | 41970540 | missense variant | G/A | snv | 0.700 | 1.000 | 27 | 1988 | 2017 | |||||
|
1 | 9 | 127660080 | frameshift variant | C/- | delins | 0.700 | 1.000 | 27 | 1998 | 2016 | |||||||
|
2 | 9 | 127665304 | frameshift variant | -/A | delins | 0.700 | 1.000 | 27 | 1998 | 2016 | |||||||
|
2 | 9 | 127669950 | frameshift variant | G/- | delins | 0.700 | 1.000 | 27 | 1998 | 2016 | |||||||
|
2 | 9 | 127682485 | frameshift variant | G/- | delins | 0.700 | 1.000 | 27 | 1998 | 2016 | |||||||
|
1 | 19 | 41981976 | missense variant | C/A;T | snv | 0.700 | 1.000 | 27 | 1988 | 2017 | |||||||
|
18 | 0.827 | 0.240 | 19 | 41970539 | missense variant | C/T | snv | 0.700 | 1.000 | 27 | 1988 | 2017 | |||||
|
1 | 9 | 127682451 | stop gained | C/A;T | snv | 0.700 | 1.000 | 27 | 1998 | 2016 | |||||||
|
4 | 0.925 | 0.040 | 9 | 127668160 | missense variant | G/A;T | snv | 0.700 | 1.000 | 27 | 1998 | 2016 | |||||
|
3 | 1.000 | 1 | 244054804 | frameshift variant | GATGA/- | delins | 0.700 | 1.000 | 26 | 1997 | 2017 |