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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.160 | 7 | 155806509 | missense variant | A/C;G | snv | 0.800 | 1.000 | 12 | 1996 | 2009 | |||||
|
2 | 0.925 | 0.120 | 7 | 155803618 | missense variant | A/T | snv | 0.800 | 1.000 | 12 | 1996 | 2009 | |||||
|
2 | 0.925 | 0.120 | 7 | 155803613 | missense variant | C/T | snv | 4.4E-05 | 5.6E-05 | 0.800 | 1.000 | 12 | 1996 | 2009 | |||
|
2 | 0.925 | 0.120 | 7 | 155803019 | missense variant | G/C;T | snv | 3.7E-05 | 0.800 | 1.000 | 12 | 1996 | 2009 | ||||
|
2 | 0.925 | 0.120 | 7 | 155811860 | missense variant | T/A | snv | 0.800 | 1.000 | 12 | 1996 | 2009 | |||||
|
2 | 0.925 | 0.160 | 7 | 155803294 | missense variant | A/G | snv | 0.700 | 1.000 | 12 | 1996 | 2009 | |||||
|
2 | 0.925 | 0.120 | 7 | 155806513 | missense variant | G/A;T | snv | 4.0E-06 | 0.800 | 1.000 | 12 | 1996 | 2009 | ||||
|
2 | 0.925 | 0.120 | 7 | 155811823 | missense variant | C/G | snv | 0.700 | 1.000 | 12 | 1996 | 2009 | |||||
|
2 | 0.925 | 0.120 | 7 | 155806296 | missense variant | C/G | snv | 0.700 | 1.000 | 12 | 1996 | 2009 | |||||
|
2 | 0.925 | 0.120 | 7 | 155803625 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 12 | 1996 | 2009 | ||||
|
2 | 0.925 | 0.120 | 7 | 155803581 | missense variant | G/T | snv | 0.700 | 1.000 | 12 | 1996 | 2009 | |||||
|
2 | 0.925 | 0.120 | 7 | 155811825 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 7 | 155806545 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 7 | 155803439 | stop gained | C/A;T | snv | 1.5E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 7 | 155803523 | stop gained | C/A;G | snv | 1.5E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | 7 | 155806475 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 2 | 44942874 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 2 | 44942853 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 7 | 155812032 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 7 | 155803481 | inframe deletion | GCGGCGGTGAGCAGCAGGCGC/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 7 | 155803149 | inframe deletion | GCGCGAAGG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 155803420 | missense variant | C/T | snv | 3.3E-03 | 2.0E-03 | 0.700 | 1.000 | 12 | 1996 | 2009 | |||
|
1 | 1.000 | 0.120 | 7 | 155803142 | missense variant | C/T | snv | 1.4E-05 | 1.4E-05 | 0.700 | 1.000 | 12 | 1996 | 2009 | |||
|
1 | 1.000 | 0.120 | 7 | 155803043 | missense variant | T/C | snv | 0.700 | 1.000 | 12 | 1996 | 2009 | |||||
|
1 | 1.000 | 0.120 | 7 | 155812007 | missense variant | A/G | snv | 0.700 | 1.000 | 12 | 1996 | 2009 |