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 | 0.160 | 5 | 132370108 | missense variant | C/G;T | snv | 4.5E-04 | 0.800 | 1.000 | 24 | 1999 | 2017 | ||||
|
3 | 0.882 | 0.280 | 5 | 132370067 | missense variant | A/G | snv | 2.4E-05 | 2.1E-05 | 0.800 | 1.000 | 24 | 1999 | 2017 | |||
|
1 | 1.000 | 0.160 | 5 | 132370220 | missense variant | G/T | snv | 2.7E-04 | 3.5E-05 | 0.800 | 1.000 | 23 | 1999 | 2017 | |||
|
1 | 1.000 | 0.160 | 5 | 132370336 | missense variant | G/A;T | snv | 3.8E-04 | 0.800 | 1.000 | 19 | 1999 | 2017 | ||||
|
1 | 1.000 | 0.160 | 5 | 132370015 | missense variant | G/T | snv | 9.6E-05 | 0.800 | 1.000 | 18 | 1999 | 2017 | ||||
|
1 | 1.000 | 0.160 | 5 | 132370023 | missense variant | C/G | snv | 1.2E-04 | 4.9E-05 | 0.800 | 1.000 | 5 | 2006 | 2014 | |||
|
1 | 1.000 | 0.160 | 5 | 132370006 | missense variant | G/A | snv | 7.1E-04 | 6.5E-04 | 0.700 | 1.000 | 18 | 1999 | 2017 | |||
|
1 | 1.000 | 0.160 | 5 | 132370028 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 18 | 1999 | 2017 | ||||
|
1 | 1.000 | 0.160 | 5 | 132370055 | missense variant | G/T | snv | 0.700 | 1.000 | 18 | 1999 | 2017 | |||||
|
1 | 1.000 | 0.160 | 5 | 132370196 | missense variant | G/C | snv | 9.9E-06 | 1.4E-05 | 0.700 | 1.000 | 18 | 1999 | 2017 | |||
|
1 | 1.000 | 0.160 | 5 | 132370034 | inframe deletion | TTC/- | delins | 0.700 | 1.000 | 7 | 1990 | 2017 | |||||
|
1 | 1.000 | 0.160 | 5 | 132370222 | frameshift variant | -/GGCTCGCCACC | delins | 0.700 | 1.000 | 6 | 2002 | 2017 | |||||
|
1 | 1.000 | 0.160 | 5 | 132369882 | start lost | GCCTGGTCGGCGGCGGGTGCCCCGCGCGCACGCGCAAAGCCCGCCGCGTTCCCCGACCCCAGGCCGCGCTCTGTGGGCCTCTGAGGGCGGCATGCGGGACTACGACGAGGTGA/- | del | 0.700 | 1.000 | 3 | 1999 | 2017 | |||||
|
1 | 1.000 | 0.160 | 5 | 132369975 | start lost | G/A;T | snv | 0.700 | 1.000 | 2 | 2005 | 2006 | |||||
|
1 | 1.000 | 0.160 | 5 | 132369984 | stop gained | C/G | snv | 8.0E-06 | 0.700 | 1.000 | 2 | 2002 | 2006 | ||||
|
1 | 1.000 | 0.160 | 5 | 132370310 | missense variant | G/A | snv | 1.3E-05 | 0.700 | 1.000 | 2 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.160 | 5 | 132370023 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 5 | 132370127 | frameshift variant | -/GACGCCG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 5 | 132370366 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 5 | 132370224 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 5 | 132370363 | stop gained | G/A;T | snv | 1.7E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.160 | 5 | 132369974 | start lost | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 5 | 132369985 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 5 | 132370157 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 5 | 132370222 | frameshift variant | -/CCGGCTCGCCACCA | delins | 0.700 | 0 |