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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 19 | 13286952 | frameshift variant | -/A | delins | 4.2E-06 | 0.700 | 1.000 | 46 | 1988 | 2017 | ||||||
|
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 | ||||||
|
2 | 12 | 51806351 | missense variant | C/A | snv | 0.700 | 1.000 | 26 | 1995 | 2017 | |||||||
|
7 | 0.827 | 0.120 | 12 | 51806345 | missense variant | G/T | snv | 0.700 | 1.000 | 26 | 1995 | 2017 | |||||
|
2 | 1.000 | 1 | 244054957 | stop gained | C/T | snv | 0.700 | 1.000 | 26 | 1997 | 2017 | ||||||
|
1 | 5 | 141626221 | missense variant | T/C | snv | 0.700 | 1.000 | 25 | 1999 | 2016 | |||||||
|
5 | 0.925 | 0.120 | 12 | 49032113 | stop gained | G/A | snv | 0.700 | 1.000 | 25 | 1988 | 2017 | |||||
|
3 | 1.000 | 9 | 137162510 | missense variant | G/A;C | snv | 0.700 | 1.000 | 25 | 1983 | 2017 | ||||||
|
4 | 0.925 | 3 | 51064514 | stop gained | C/T | snv | 0.700 | 1.000 | 23 | 2000 | 2018 | ||||||
|
2 | 17 | 59668852 | missense variant | C/T | snv | 0.700 | 1.000 | 23 | 1976 | 2017 |