| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.120 | 1 | 156115040 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.120 | 1 | 156134839 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 1 | 156134829 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
10 | 0.827 | 0.160 | 1 | 156134830 | missense variant | A/C | snv | 0.040 | 0.750 | 4 | 2013 | 2019 | |||||
|
8 | 0.776 | 0.200 | 1 | 156136413 | missense variant | C/T | snv | 0.030 | 1.000 | 3 | 2005 | 2016 | |||||
|
8 | 0.776 | 0.200 | 1 | 156137204 | missense variant | G/A;C | snv | 4.1E-05 | 0.020 | 1.000 | 2 | 2003 | 2015 | ||||
|
29 | 0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
3 | 1.000 | 0.120 | 6 | 152401278 | missense variant | C/T | snv | 9.3E-04 | 4.0E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
4 | 0.925 | 0.120 | X | 154379485 | start lost | A/G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.882 | 0.200 | 1 | 156136121 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
3 | 0.925 | 0.120 | 1 | 156130745 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
11 | 0.763 | 0.320 | 1 | 156136984 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
2 | 0.925 | 0.160 | 1 | 156137197 | frameshift variant | -/CTGC | delins | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
5 | 0.851 | 0.240 | 1 | 156130688 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
2 | 0.925 | 0.120 | 1 | 156136076 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
5 | 0.827 | 0.120 | 1 | 156136036 | stop gained | G/A;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.882 | 0.160 | 1 | 156137213 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
11 | 0.776 | 0.200 | 1 | 156136094 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2004 | 2004 |