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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.851 | 0.040 | 15 | 63044030 | stop gained | G/A;C;T | snv | 4.0E-06 | 0.040 | 1.000 | 4 | 2005 | 2013 | ||||
|
4 | 0.882 | 0.040 | 15 | 63044072 | missense variant | G/A | snv | 0.040 | 1.000 | 4 | 2005 | 2017 | |||||
|
3 | 0.925 | 0.040 | 15 | 63043751 | missense variant | G/A | snv | 6.8E-06 | 0.040 | 1.000 | 4 | 2005 | 2017 | ||||
|
4 | 0.882 | 0.040 | 15 | 63044029 | frameshift variant | G/- | delins | 0.040 | 1.000 | 4 | 2005 | 2013 | |||||
|
6 | 0.851 | 0.040 | 15 | 63042874 | missense variant | G/A;T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2016 | 2017 | ||||
|
6 | 0.827 | 0.080 | 15 | 63062263 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2010 | 2017 | |||||
|
1 | 1.000 | 0.040 | 15 | 63059641 | splice region variant | C/A | snv | 0.67 | 0.65 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.040 | 15 | 63042909 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 15 | 63057032 | synonymous variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
4 | 0.882 | 0.040 | 15 | 63060930 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
3 | 0.925 | 0.080 | 15 | 63062219 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.040 | 15 | 63071702 | 3 prime UTR variant | C/T | snv | 0.64 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 15 | 63071899 | 3 prime UTR variant | G/T | snv | 0.13 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 15 | 63060900 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 |