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 | 22 | 50525908 | stop gained | C/T | snv | 0.700 | 0 | |||||||||
|
6 | 0.827 | 0.080 | 15 | 89330184 | missense variant | G/A | snv | 1.5E-03 | 1.6E-03 | 0.700 | 0 | ||||||
|
31 | 0.701 | 0.360 | 15 | 89327201 | missense variant | C/T | snv | 5.1E-04 | 6.7E-04 | 0.700 | 0 | ||||||
|
8 | 0.827 | 0.080 | 15 | 89325639 | missense variant | G/A | snv | 1.5E-03 | 1.6E-03 | 0.700 | 0 | ||||||
|
12 | 0.742 | 0.320 | 15 | 89321792 | missense variant | C/T | snv | 1.5E-04 | 2.7E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | MT | 8313 | non coding transcript exon variant | G/A | snv | 0.700 | 0 | |||||||||
|
6 | 0.807 | 0.240 | 15 | 89329055 | missense variant | A/C | snv | 5.7E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
6 | 0.807 | 0.240 | 15 | 89321780 | missense variant | G/A | snv | 4.8E-05 | 6.3E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 22 | 50525910 | frameshift variant | -/G | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 22 | 50525898 | frameshift variant | -/C | delins | 0.700 | 0 | |||||||||
|
4 | 0.925 | 0.120 | 22 | 50527165 | inframe deletion | AGC/- | delins | 0.700 | 0 | ||||||||
|
6 | 0.807 | 0.240 | 15 | 89318737 | missense variant | G/A;C | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.925 | 0.120 | 22 | 50527606 | missense variant | T/G | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 22 | 50525808 | frameshift variant | -/G | delins | 0.700 | 0 | |||||||||
|
1 | 1.000 | 22 | 50526638 | missense variant | T/G | snv | 5.3E-05 | 4.9E-05 | 0.700 | 1.000 | 5 | 1999 | 2013 | ||||
|
1 | 1.000 | 22 | 50528595 | missense variant | C/T | snv | 1.6E-05 | 7.0E-05 | 0.800 | 1.000 | 2 | 1999 | 2002 | ||||
|
1 | 1.000 | 22 | 50528571 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.800 | 1.000 | 2 | 1999 | 2002 | ||||
|
1 | 1.000 | 22 | 50527265 | missense variant | T/C | snv | 1.2E-05 | 9.8E-05 | 0.800 | 1.000 | 2 | 1999 | 2002 | ||||
|
1 | 1.000 | 22 | 50529579 | missense variant | C/T | snv | 0.800 | 1.000 | 2 | 1999 | 2002 | ||||||
|
1 | 1.000 | 22 | 50526142 | splice acceptor variant | C/G;T | snv | 0.700 | 1.000 | 2 | 1999 | 2000 | ||||||
|
1 | 1.000 | 22 | 50525867 | frameshift variant | -/G | delins | 0.700 | 1.000 | 1 | 1999 | 1999 | ||||||
|
1 | 1.000 | 22 | 50525919 | splice acceptor variant | C/A;T | snv | 9.2E-06 | 0.700 | 1.000 | 1 | 1999 | 1999 | |||||
|
1 | 1.000 | 22 | 50526103 | inframe deletion | CCAGCG/- | delins | 1.2E-05 | 2.1E-05 | 0.700 | 1.000 | 1 | 1999 | 1999 | ||||
|
1 | 1.000 | 22 | 50528510 | splice donor variant | A/G;T | snv | 0.700 | 1.000 | 1 | 1999 | 1999 | ||||||
|
1 | 1.000 | 22 | 50528550 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2000 | 2000 |