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 | 0.827 | 0.120 | 3 | 122261589 | frameshift variant | G/- | del | 0.020 | 1.000 | 2 | 2016 | 2019 | |||||
|
1 | 1.000 | 0.080 | 3 | 122284195 | frameshift variant | CC/T | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 3 | 122283699 | missense variant | G/A;T | snv | 0.700 | 1.000 | 7 | 1995 | 2016 | |||||
|
1 | 1.000 | 0.080 | 3 | 122283963 | missense variant | G/A | snv | 0.800 | 1.000 | 7 | 1995 | 2016 | |||||
|
10 | 0.790 | 0.200 | 3 | 122261589 | missense variant | G/A;C | snv | 0.720 | 1.000 | 2 | 2016 | 2019 | |||||
|
1 | 1.000 | 0.080 | 3 | 122282156 | missense variant | G/A | snv | 0.710 | 1.000 | 1 | 2007 | 2007 | |||||
|
3 | 0.882 | 0.160 | 3 | 122261924 | missense variant | G/A | snv | 0.710 | 1.000 | 1 | 2012 | 2012 | |||||
|
5 | 0.851 | 0.120 | 3 | 122254304 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
39 | 0.633 | 0.600 | 3 | 122284910 | missense variant | G/T | snv | 0.13 | 0.11 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
3 | 0.882 | 0.120 | 3 | 122284257 | missense variant | G/T | snv | 2.8E-05 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.827 | 0.160 | 3 | 122261715 | missense variant | G/A;T | snv | 4.0E-06 | 0.810 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.120 | 3 | 122283896 | stop gained | C/A;G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 3 | 122261588 | stop gained | C/A;T | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 3 | 122257175 | stop gained | G/T | snv | 0.700 | 0 |