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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.200 | 5 | 132618182 | stop gained | C/G;T | snv | 1.6E-05 | 2.8E-05 | 0.700 | 1.000 | 4 | 2009 | 2017 | |||
|
2 | 1.000 | 0.200 | 5 | 132579997 | frameshift variant | T/- | del | 4.1E-04 | 0.700 | 1.000 | 4 | 2003 | 2015 | ||||
|
2 | 1.000 | 0.200 | 5 | 132594950 | stop gained | C/G;T | snv | 8.0E-05; 5.6E-05 | 0.700 | 1.000 | 2 | 2008 | 2015 | ||||
|
2 | 1.000 | 0.200 | 5 | 132609388 | frameshift variant | CACA/- | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1.000 | 0.200 | 5 | 132588728 | stop gained | C/G;T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 1.000 | 0.200 | 5 | 132604020 | frameshift variant | AA/- | del | 5.6E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.200 | 5 | 132642364 | stop lost | A/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.200 | 5 | 132559336 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.200 | 5 | 132588806 | frameshift variant | CAGA/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.200 | 5 | 132579402 | frameshift variant | -/TA | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.200 | 5 | 132595760 | frameshift variant | A/-;AA | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.200 | 5 | 132587942 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.200 | 5 | 132595719 | stop gained | C/T | snv | 8.0E-06 | 2.1E-05 | 0.700 | 0 | ||||||
|
2 | 1.000 | 0.200 | 5 | 132579868 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.200 | 5 | 132638094 | frameshift variant | AGAAATA/- | del | 0.700 | 0 |