Source: INFERRED ×
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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.776 | 0.200 | 1 | 156136413 | missense variant | C/T | snv | 0.810 | 1.000 | 0 | 2008 | 2017 | |||||
|
4 | 0.827 | 0.280 | 1 | 156137207 | missense variant | C/A;G;T | snv | 9.3E-06 | 0.800 | 1.000 | 11 | 1991 | 2014 | ||||
|
3 | 0.882 | 0.120 | 1 | 156134910 | missense variant | C/G;T | snv | 0.800 | 1.000 | 3 | 2008 | 2017 | |||||
|
1 | 0.925 | 0.120 | 1 | 156134860 | missense variant | G/A | snv | 0.800 | 1.000 | 3 | 2000 | 2017 | |||||
|
4 | 0.776 | 0.200 | 1 | 156137204 | missense variant | G/A;C | snv | 4.1E-05 | 0.800 | 1.000 | 0 | 2012 | 2017 | ||||
|
1 | 0.882 | 0.160 | 1 | 156137213 | missense variant | T/C | snv | 0.800 | 1.000 | 0 | 2012 | 2017 | |||||
|
4 | 0.882 | 0.160 | 1 | 156134474 | missense variant | C/A;G | snv | 0.710 | 1.000 | 0 | 2001 | 2001 | |||||
|
3 | 0.776 | 0.200 | 1 | 156136094 | missense variant | G/A;T | snv | 0.710 | 1.000 | 0 | 2004 | 2004 | |||||
|
5 | 0.827 | 0.160 | 1 | 156134911 | missense variant | G/A | snv | 0.700 | 1.000 | 13 | 2000 | 2014 | |||||
|
2 | 0.925 | 0.160 | 1 | 156135314 | splice donor variant | T/C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
6 | 0.827 | 0.200 | 1 | 156130818 | intron variant | T/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
14 | 0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 156136925 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 156137237 | splice region variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 156134509 | inframe deletion | GAA/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.120 | 1 | 156134976 | splice donor variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
16 | 0.708 | 0.360 | 1 | 156135967 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 1 | 156137017 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 1 | 156135923 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
1 | 0.925 | 0.120 | 1 | 156134942 | stop gained | T/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.827 | 0.120 | 1 | 156136036 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.790 | 0.200 | 1 | 156134838 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.120 | 1 | 156114934 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.827 | 0.160 | 1 | 156134496 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 0.925 | 0.160 | 1 | 156134809 | missense variant | T/C | snv | 0.700 | 0 |