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 | 1.000 | 19 | 13298847 | frameshift variant | -/A | ins | 0.700 | 1.000 | 46 | 1988 | 2017 | ||||||
|
2 | 1.000 | 6 | 157148899 | frameshift variant | -/A | delins | 0.700 | 1.000 | 20 | 1984 | 2017 | ||||||
|
1 | 1.000 | 8 | 60781137 | frameshift variant | -/A | delins | 0.700 | 1.000 | 20 | 1999 | 2016 | ||||||
|
1 | 1.000 | 21 | 37493094 | frameshift variant | -/A | delins | 0.700 | 1.000 | 18 | 1990 | 2016 | ||||||
|
9 | 0.882 | 21 | 37480756 | frameshift variant | -/A | delins | 0.700 | 1.000 | 18 | 1990 | 2016 | ||||||
|
2 | 1.000 | 17 | 44853630 | frameshift variant | -/A | delins | 0.700 | 1.000 | 15 | 2006 | 2017 | ||||||
|
3 | 1.000 | 15 | 38339805 | frameshift variant | -/A | delins | 0.700 | 1.000 | 14 | 1988 | 2013 | ||||||
|
3 | 1.000 | 1 | 151406151 | frameshift variant | -/A | delins | 0.700 | 1.000 | 13 | 1999 | 2017 | ||||||
|
4 | 0.925 | 0.320 | 8 | 99835295 | frameshift variant | -/A | delins | 0.700 | 1.000 | 12 | 1998 | 2015 | |||||
|
3 | 0.925 | 0.160 | 19 | 7528881 | frameshift variant | -/A | delins | 0.700 | 1.000 | 11 | 1998 | 2016 | |||||
|
1 | 1.000 | 20 | 58840368 | frameshift variant | -/A | delins | 0.700 | 1.000 | 10 | 1993 | 2017 | ||||||
|
2 | 1.000 | 9 | 133351945 | frameshift variant | -/A | delins | 4.0E-06 | 0.700 | 1.000 | 7 | 1998 | 2016 | |||||
|
4 | 1.000 | 22 | 35781685 | frameshift variant | -/A | delins | 0.700 | 1.000 | 6 | 2005 | 2016 | ||||||
|
3 | 1.000 | 17 | 76733042 | frameshift variant | -/A | delins | 7.0E-06 | 0.700 | 1.000 | 2 | 2014 | 2014 | |||||
|
1 | 1.000 | X | 18604131 | frameshift variant | -/AC | delins | 0.700 | 1.000 | 17 | 2004 | 2016 | ||||||
|
1 | 1.000 | 11 | 118484971 | splice donor variant | -/AG | delins | 0.700 | 1.000 | 22 | 1989 | 2017 | ||||||
|
2 | 1.000 | 5 | 177210101 | stop gained | -/AG | ins | 0.700 | 1.000 | 9 | 2002 | 2013 | ||||||
|
2 | 1.000 | X | 8731936 | frameshift variant | -/AGCAGCCGCGC | delins | 0.700 | 1.000 | 7 | 1991 | 2014 | ||||||
|
2 | 1.000 | 12 | 49033147 | frameshift variant | -/AGCCTGTGTCC | delins | 0.700 | 1.000 | 25 | 1988 | 2017 | ||||||
|
2 | 1.000 | 19 | 40512839 | frameshift variant | -/AGCGGGCGGCGCGCATGACC | delins | 0.700 | 1.000 | 14 | 2000 | 2017 | ||||||
|
2 | 1.000 | 1 | 235448437 | stop gained | -/AGTAA | delins | 2.0E-05 | 6.3E-05 | 0.700 | 1.000 | 6 | 1991 | 2016 | ||||
|
3 | 0.925 | 0.040 | X | 19359619 | frameshift variant | -/ATCA | delins | 0.700 | 1.000 | 10 | 1995 | 2016 | |||||
|
3 | 1.000 | 17 | 31330303 | frameshift variant | -/C | delins | 0.700 | 1.000 | 34 | 1967 | 2017 | ||||||
|
1 | 1.000 | 11 | 118521302 | frameshift variant | -/C | delins | 0.700 | 1.000 | 22 | 1989 | 2017 | ||||||
|
1 | 1.000 | 8 | 60845311 | frameshift variant | -/C | delins | 0.700 | 1.000 | 20 | 1999 | 2016 |