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 | 0.120 | 16 | 88648103 | missense variant | C/T | snv | 1.2E-05 | 0.800 | 1.000 | 11 | 1990 | 2013 | ||||
|
1 | 1.000 | 0.120 | 16 | 88646761 | missense variant | T/C | snv | 0.800 | 1.000 | 10 | 1990 | 2013 | |||||
|
1 | 1.000 | 0.120 | 16 | 88646773 | missense variant | C/T | snv | 4.0E-06 | 0.800 | 1.000 | 10 | 1990 | 2013 | ||||
|
1 | 1.000 | 0.120 | 16 | 88646131 | missense variant | G/A;T | snv | 1.9E-05; 4.3E-05 | 0.800 | 1.000 | 10 | 1990 | 2013 | ||||
|
2 | 1.000 | 0.120 | 16 | 88643474 | missense variant | G/T | snv | 0.800 | 1.000 | 10 | 1990 | 2013 | |||||
|
1 | 1.000 | 0.120 | 16 | 88646774 | missense variant | G/A;C | snv | 4.0E-05; 1.2E-05 | 0.800 | 1.000 | 10 | 1990 | 2013 | ||||
|
1 | 1.000 | 0.120 | 16 | 88647149 | missense variant | A/G | snv | 4.1E-06 | 7.0E-06 | 0.700 | 1.000 | 10 | 1990 | 2013 | |||
|
1 | 1.000 | 0.120 | 16 | 88648099 | missense variant | C/A;T | snv | 0.700 | 1.000 | 10 | 1990 | 2013 | |||||
|
1 | 1.000 | 0.120 | 16 | 88647146 | missense variant | T/A;C | snv | 0.700 | 1.000 | 10 | 1990 | 2013 | |||||
|
1 | 1.000 | 0.120 | 16 | 88643570 | missense variant | G/A | snv | 7.7E-06 | 2.8E-05 | 0.700 | 1.000 | 10 | 1990 | 2013 | |||
|
1 | 1.000 | 0.120 | 16 | 88651007 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 88643568 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 88646796 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
6 | 0.925 | 0.160 | 16 | 88646212 | non coding transcript exon variant | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 88646754 | splice donor variant | C/T | snv | 0.700 | 0 |