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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.790 | 0.160 | 10 | 87933223 | missense variant | A/C;G | snv | 0.700 | 1.000 | 14 | 2001 | 2015 | |||||
|
32 | 0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv | 0.700 | 1.000 | 14 | 2001 | 2015 | |||||
|
2 | 1.000 | 10 | 87933066 | frameshift variant | CC/-;C | delins | 0.700 | 1.000 | 14 | 2001 | 2015 | ||||||
|
4 | 0.925 | 0.160 | 7 | 150948861 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 14 | 1999 | 2016 | ||||
|
10 | 0.790 | 0.360 | 3 | 179221146 | missense variant | G/A | snv | 0.700 | 1.000 | 14 | 2006 | 2018 | |||||
|
6 | 0.851 | 0.200 | 11 | 77190108 | missense variant | G/A | snv | 7.5E-05 | 5.6E-05 | 0.700 | 1.000 | 13 | 1995 | 2011 | |||
|
2 | 11 | 77156991 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 0.700 | 1.000 | 13 | 1995 | 2011 | |||||
|
2 | 1.000 | 1 | 244860382 | missense variant | T/C | snv | 0.700 | 1.000 | 13 | 2010 | 2017 | ||||||
|
3 | 1.000 | 9 | 95506567 | stop gained | C/T | snv | 0.700 | 1.000 | 13 | 1996 | 2016 | ||||||
|
4 | 0.925 | 12 | 4299977 | missense variant | A/G | snv | 0.700 | 1.000 | 13 | 2004 | 2018 | ||||||
|
3 | 1.000 | 9 | 95508175 | stop gained | C/A;G | snv | 4.0E-06 | 0.700 | 1.000 | 13 | 1996 | 2016 | |||||
|
63 | 0.645 | 0.520 | 1 | 226071445 | missense variant | A/G | snv | 0.700 | 1.000 | 12 | 1997 | 2015 | |||||
|
2 | 1.000 | 0.080 | 1 | 160137001 | missense variant | G/A | snv | 0.700 | 1.000 | 12 | 1992 | 2017 | |||||
|
2 | 1.000 | 11 | 71118963 | stop gained | G/A | snv | 0.700 | 1.000 | 12 | 2010 | 2017 | ||||||
|
2 | 1.000 | 15 | 92953386 | missense variant | T/C | snv | 0.700 | 1.000 | 12 | 2007 | 2017 | ||||||
|
2 | 1.000 | X | 53195978 | stop gained | G/A | snv | 0.700 | 1.000 | 12 | 2005 | 2016 | ||||||
|
13 | 0.732 | 0.440 | 16 | 3243310 | missense variant | A/G;T | snv | 2.2E-03; 4.0E-06 | 0.700 | 1.000 | 12 | 1967 | 2017 | ||||
|
2 | 1.000 | 14 | 21394188 | frameshift variant | G/-;GG | delins | 0.700 | 1.000 | 12 | 2008 | 2017 | ||||||
|
10 | 0.925 | 0.160 | 15 | 72346579 | frameshift variant | -/GATA | delins | 4.0E-06; 8.0E-04 | 4.5E-04 | 0.700 | 1.000 | 11 | 1986 | 2011 | |||
|
14 | 0.763 | 0.040 | 5 | 161873196 | missense variant | G/A | snv | 0.700 | 1.000 | 11 | 1997 | 2016 | |||||
|
4 | 0.925 | X | 74742675 | stop gained | G/A | snv | 0.700 | 1.000 | 11 | 2004 | 2017 | ||||||
|
3 | 1.000 | 11 | 687999 | stop gained | G/T | snv | 0.700 | 1.000 | 10 | 2010 | 2017 | ||||||
|
2 | 16 | 89934974 | missense variant | G/C | snv | 0.700 | 1.000 | 10 | 2010 | 2016 | |||||||
|
3 | 1.000 | 20 | 58909707 | missense variant | G/A | snv | 0.700 | 1.000 | 10 | 1993 | 2017 | ||||||
|
2 | 1.000 | X | 120547191 | stop gained | G/A | snv | 0.700 | 1.000 | 10 | 2000 | 2017 |