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 | 0.040 | 1 | 156115220 | missense variant | G/A;C;T | snv | 4.1E-06 | 0.700 | 1.000 | 17 | 1999 | 2012 | ||||
|
1 | 1.000 | 0.040 | 1 | 156134518 | missense variant | T/G | snv | 0.700 | 1.000 | 17 | 1999 | 2012 | |||||
|
1 | 1.000 | 0.040 | 1 | 156135916 | missense variant | G/A | snv | 1.6E-05 | 1.4E-05 | 0.700 | 1.000 | 17 | 1999 | 2012 | |||
|
1 | 1.000 | 0.040 | 1 | 156136010 | missense variant | G/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 17 | 1999 | 2012 | ||||
|
1 | 1.000 | 0.040 | 1 | 156115207 | missense variant | A/G | snv | 0.700 | 1.000 | 17 | 1999 | 2012 | |||||
|
1 | 1.000 | 0.040 | 1 | 156136258 | missense variant | G/A | snv | 8.0E-05 | 9.8E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.040 | 1 | 156126897 | missense variant | C/T | snv | 2.3E-04 | 6.3E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.040 | 1 | 156134883 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 1 | 156134892 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 1 | 156134500 | missense variant | T/A;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 1 | 156136081 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 1 | 156130757 | missense variant | G/A;C | snv | 4.8E-05 | 0.800 | 1.000 | 20 | 1999 | 2017 | ||||
|
2 | 0.925 | 0.040 | 1 | 156137191 | missense variant | G/A;C | snv | 8.6E-05 | 0.700 | 1.000 | 17 | 1999 | 2012 | ||||
|
2 | 0.925 | 0.040 | 1 | 156115192 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 17 | 1999 | 2012 | ||||
|
2 | 0.925 | 0.160 | 1 | 156136219 | missense variant | G/A;C | snv | 1.2E-05 | 0.700 | 1.000 | 17 | 1999 | 2012 | ||||
|
2 | 1.000 | 0.040 | 1 | 156134497 | missense variant | A/G;T | snv | 0.800 | 1.000 | 17 | 1999 | 2012 | |||||
|
2 | 0.925 | 0.120 | 1 | 156115184 | missense variant | G/A;T | snv | 0.700 | 1.000 | 17 | 1999 | 2012 | |||||
|
2 | 0.925 | 0.160 | 1 | 156134809 | missense variant | T/C | snv | 0.700 | 1.000 | 3 | 2013 | 2017 | |||||
|
2 | 0.925 | 0.120 | 1 | 156136284 | stop gained | C/T | snv | 0.700 | 1.000 | 2 | 1999 | 2016 | |||||
|
2 | 0.925 | 0.080 | 1 | 156134914 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.120 | 1 | 156115096 | missense variant | C/G;T | snv | 0.800 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 1 | 156135923 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 1 | 156137183 | stop gained | G/A;C | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 1 | 156136952 | missense variant | G/A;C | snv | 1.4E-05 | 0.810 | 1.000 | 24 | 1999 | 2014 | ||||
|
3 | 0.925 | 0.160 | 1 | 156115172 | missense variant | T/A;G | snv | 0.800 | 1.000 | 20 | 1999 | 2017 |