| 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 | 20 | 63695093 | missense variant | A/C | snv | 0.800 | 0 | |||||||||
|
4 | 0.851 | 0.160 | 20 | 63695619 | missense variant | G/A | snv | 1.6E-04 | 7.7E-05 | 0.700 | 1.000 | 6 | 2013 | 2015 | |||
|
3 | 0.882 | 0.120 | 20 | 63687765 | missense variant | G/T | snv | 4.9E-05 | 7.0E-06 | 0.700 | 1.000 | 5 | 2009 | 2016 | |||
|
4 | 0.851 | 0.120 | 20 | 63693247 | stop gained | C/A;T | snv | 8.0E-06; 7.2E-05 | 0.700 | 1.000 | 4 | 2013 | 2017 | ||||
|
4 | 0.851 | 0.160 | 20 | 63693211 | stop gained | C/A;G;T | snv | 4.0E-06; 3.2E-05 | 0.700 | 1.000 | 4 | 2013 | 2017 | ||||
|
1 | 1.000 | 20 | 63689563 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 20 | 63692960 | frameshift variant | C/- | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.040 | 20 | 63693248 | missense variant | G/A;T | snv | 2.8E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 20 | 63689628 | stop gained | C/T | snv | 0.700 | 0 | |||||||||
|
2 | 0.925 | 20 | 63662886 | stop gained | G/T | snv | 0.700 | 0 | |||||||||
|
3 | 0.882 | 0.160 | 20 | 63690442 | splice donor variant | G/A;C | snv | 4.5E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 20 | 63687740 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 20 | 63666066 | frameshift variant | G/- | delins | 0.700 | 0 | |||||||||
|
2 | 0.925 | 0.040 | 20 | 63690162 | inframe deletion | ATGTCATCC/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 20 | 63691799 | stop gained | C/T | snv | 8.0E-06; 4.0E-06 | 1.4E-05 | 0.700 | 0 |