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 | 0.925 | 0.080 | 1 | 161307299 | missense variant | T/C | snv | 0.700 | 1.000 | 20 | 1993 | 2008 | |||||
|
2 | 0.925 | 0.080 | 1 | 161307340 | missense variant | G/A | snv | 0.700 | 1.000 | 20 | 1993 | 2008 | |||||
|
2 | 0.851 | 0.160 | 1 | 161306738 | missense variant | A/C;T | snv | 8.0E-06 | 0.700 | 1.000 | 20 | 1993 | 2008 | ||||
|
1 | 1.000 | 0.080 | 1 | 161306746 | missense variant | C/T | snv | 0.700 | 1.000 | 2 | 2013 | 2014 | |||||
|
2 | 0.925 | 0.080 | 1 | 161305973 | splice acceptor variant | TCTGGGGGAGGGGCG/- | delins | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.080 | 1 | 161306831 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
9 | 0.752 | 0.200 | 1 | 161306414 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.827 | 0.160 | 1 | 161307268 | missense variant | T/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.882 | 0.080 | 1 | 161306763 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 0.925 | 0.080 | 1 | 161306789 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
8 | 0.776 | 0.160 | 1 | 161306759 | missense variant | G/C;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 1 | 161306880 | synonymous variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 0.925 | 0.080 | 1 | 161307403 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 161307317 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 161306915 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 1 | 161306912 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 161306850 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 161306164 | frameshift variant | -/A | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 161306809 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 161306107 | splice donor variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 161305974 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 161307328 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 161306728 | missense variant | G/A | snv | 4.4E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
2 | 0.882 | 0.080 | 1 | 161307311 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 161306327 | splice donor variant | A/C | snv | 0.700 | 0 |