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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.790 | 0.160 | 19 | 13262780 | missense variant | C/T | snv | 0.700 | 1.000 | 46 | 1988 | 2017 | |||||
|
2 | 1.000 | 19 | 13298827 | stop gained | G/A;C | snv | 0.700 | 1.000 | 46 | 1988 | 2017 | ||||||
|
1 | 1.000 | 19 | 13298847 | frameshift variant | -/A | ins | 0.700 | 1.000 | 46 | 1988 | 2017 | ||||||
|
6 | 0.827 | 0.160 | 19 | 13303584 | missense variant | C/T | snv | 0.700 | 1.000 | 46 | 1988 | 2017 | |||||
|
2 | 1.000 | 9 | 128203604 | missense variant | G/A | snv | 0.700 | 1.000 | 38 | 1983 | 2017 | ||||||
|
1 | 1.000 | 9 | 128220205 | missense variant | G/T | snv | 0.700 | 1.000 | 38 | 1983 | 2017 | ||||||
|
15 | 0.776 | 0.240 | 2 | 25234373 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 2.2E-04 | 0.700 | 1.000 | 36 | 1989 | 2018 | ||||
|
2 | 0.925 | 0.120 | 17 | 31235639 | frameshift variant | TTTG/- | delins | 0.700 | 1.000 | 34 | 1967 | 2017 | |||||
|
4 | 0.925 | 0.120 | 17 | 31235623 | stop gained | C/T | snv | 0.700 | 1.000 | 34 | 1967 | 2017 | |||||
|
2 | 1.000 | 2 | 165354339 | frameshift variant | GA/- | del | 0.700 | 1.000 | 34 | 1991 | 2017 | ||||||
|
3 | 1.000 | 17 | 31330303 | frameshift variant | -/C | delins | 0.700 | 1.000 | 34 | 1967 | 2017 | ||||||
|
1 | 1.000 | 17 | 31334860 | stop gained | T/A | snv | 0.700 | 1.000 | 34 | 1967 | 2017 | ||||||
|
1 | 1.000 | 17 | 31338798 | frameshift variant | -/TA | delins | 0.700 | 1.000 | 34 | 1967 | 2017 | ||||||
|
30 | 0.645 | 0.560 | 4 | 1805644 | missense variant | C/A;G;T | snv | 1.6E-05 | 0.700 | 1.000 | 34 | 1985 | 2016 | ||||
|
3 | 0.882 | 0.080 | 2 | 165389123 | missense variant | G/A | snv | 0.700 | 1.000 | 34 | 1991 | 2017 | |||||
|
4 | 0.925 | 9 | 83971976 | stop gained | G/A | snv | 0.700 | 1.000 | 30 | 1996 | 2018 | ||||||
|
3 | 0.925 | 1 | 22086456 | missense variant | A/G | snv | 0.700 | 1.000 | 30 | 1993 | 2015 | ||||||
|
1 | 1.000 | 1 | 22078546 | missense variant | A/G | snv | 0.700 | 1.000 | 30 | 1993 | 2015 | ||||||
|
5 | 0.882 | 0.160 | 15 | 48432947 | stop gained | G/A | snv | 0.700 | 1.000 | 29 | 1986 | 2016 | |||||
|
1 | 1.000 | 15 | 48412588 | frameshift variant | -/T | delins | 0.700 | 1.000 | 29 | 1986 | 2016 | ||||||
|
2 | 1.000 | 20 | 63407149 | frameshift variant | G/- | delins | 0.700 | 1.000 | 29 | 1980 | 2017 | ||||||
|
4 | 0.882 | 0.120 | 15 | 48460258 | missense variant | C/T | snv | 0.700 | 1.000 | 29 | 1986 | 2016 | |||||
|
4 | 0.925 | 0.160 | 15 | 48432911 | missense variant | A/G | snv | 0.700 | 1.000 | 29 | 1986 | 2016 | |||||
|
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 |