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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
29 | 0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
16 | 0.708 | 0.360 | 1 | 156135967 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
11 | 0.776 | 0.200 | 1 | 156136094 | missense variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2003 | 2003 | |||||
|
9 | 0.776 | 0.240 | 1 | 156114947 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
9 | 0.776 | 0.200 | 1 | 156138507 | missense variant | C/T | snv | 1.5E-04 | 1.0E-04 | 0.800 | 0 | ||||||
|
11 | 0.790 | 0.200 | 1 | 156134838 | stop gained | C/T | snv | 7.0E-06 | 0.030 | 1.000 | 3 | 2007 | 2020 | ||||
|
7 | 0.807 | 0.240 | 1 | 156136359 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 17 | 1999 | 2012 | |||
|
8 | 0.807 | 0.240 | 1 | 156138719 | missense variant | C/A;T | snv | 1.2E-03 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.827 | 0.200 | 1 | 156137666 | missense variant | C/A;G;T | snv | 0.810 | 1.000 | 24 | 1999 | 2017 | |||||
|
7 | 0.827 | 0.160 | 1 | 156134457 | missense variant | C/T | snv | 7.0E-06 | 0.710 | 0.944 | 18 | 1999 | 2012 | ||||
|
6 | 0.827 | 0.160 | 1 | 156134496 | missense variant | G/A | snv | 0.700 | 1.000 | 17 | 1999 | 2012 | |||||
|
5 | 0.827 | 0.120 | 1 | 156138540 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
10 | 0.827 | 0.160 | 1 | 156134830 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
5 | 0.827 | 0.160 | 1 | 156134911 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.040 | 1 | 156130687 | missense variant | T/C | snv | 0.720 | 1.000 | 18 | 1999 | 2019 | |||||
|
6 | 0.851 | 0.120 | 1 | 156137743 | splice region variant | C/T | snv | 0.26 | 0.21 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
5 | 0.851 | 0.160 | 1 | 156137667 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
4 | 0.851 | 0.160 | 1 | 156135293 | missense variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.160 | 1 | 156134474 | missense variant | C/A;G | snv | 0.800 | 1.000 | 20 | 1999 | 2017 | |||||
|
6 | 0.882 | 0.040 | 1 | 156134464 | missense variant | A/G;T | snv | 0.720 | 1.000 | 18 | 1999 | 2012 | |||||
|
4 | 0.882 | 0.160 | 1 | 156134458 | missense variant | G/A;T | snv | 0.700 | 1.000 | 17 | 1999 | 2012 | |||||
|
5 | 0.882 | 0.160 | 1 | 156130741 | missense variant | G/A | snv | 0.810 | 1.000 | 17 | 1999 | 2012 | |||||
|
3 | 0.882 | 0.160 | 1 | 156136251 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.120 | 1 | 156135280 | frameshift variant | CT/- | delins | 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 |