| 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 | 0.080 | 1 | 156876496 | missense variant | G/A;C | snv | 2.0E-05 | 0.810 | 1.000 | 14 | 1996 | 2017 | ||||
|
1 | 1.000 | 0.080 | 1 | 156868568 | missense variant | T/C | snv | 1.4E-05 | 0.810 | 1.000 | 5 | 1999 | 2016 | ||||
|
1 | 1.000 | 0.080 | 1 | 156880036 | missense variant | C/T | snv | 0.800 | 1.000 | 14 | 1996 | 2017 | |||||
|
1 | 1.000 | 0.080 | 1 | 156873858 | missense variant | A/G | snv | 0.800 | 1.000 | 14 | 1996 | 2017 | |||||
|
1 | 1.000 | 0.080 | 1 | 156876526 | missense variant | A/G | snv | 0.800 | 1.000 | 14 | 1996 | 2017 | |||||
|
1 | 1.000 | 0.080 | 1 | 156879336 | missense variant | G/T | snv | 4.1E-06 | 0.800 | 1.000 | 14 | 1996 | 2017 | ||||
|
1 | 1.000 | 0.080 | 1 | 156881532 | missense variant | C/T | snv | 1.4E-05 | 0.710 | 1.000 | 3 | 2001 | 2017 | ||||
|
1 | 1.000 | 0.080 | 1 | 156881562 | missense variant | C/T | snv | 8.2E-06 | 7.0E-06 | 0.700 | 1.000 | 14 | 1996 | 2017 | |||
|
1 | 1.000 | 0.080 | 1 | 156875639 | missense variant | G/A | snv | 4.5E-04 | 3.9E-04 | 0.700 | 1.000 | 14 | 1996 | 2017 | |||
|
1 | 1.000 | 0.080 | 1 | 156879261 | missense variant | C/T | snv | 8.0E-06 | 2.1E-05 | 0.700 | 1.000 | 14 | 1996 | 2017 | |||
|
1 | 1.000 | 0.080 | 1 | 156879365 | splice region variant | A/C | snv | 4.2E-06 | 0.700 | 1.000 | 2 | 1996 | 2009 | ||||
|
1 | 1.000 | 0.080 | 1 | 156874568 | splice acceptor variant | CAG/- | del | 0.700 | 1.000 | 1 | 2000 | 2000 | |||||
|
1 | 1.000 | 0.080 | 1 | 156874570 | splice acceptor variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2001 | 2001 | ||||
|
1 | 1.000 | 0.080 | 1 | 156866908 | splice acceptor variant | A/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 1 | 156873822 | missense variant | G/A;C | snv | 1.2E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 1 | 156876426 | frameshift variant | T/- | del | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 156879363 | splice donor variant | G/T | snv | 8.3E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 1 | 156874963 | frameshift variant | -/TTGT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 156881590 | missense variant | G/A;C | snv | 4.8E-03; 4.1E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 156866974 | stop gained | G/A;T | snv | 2.8E-05 | 2.7E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 1 | 156861141 | frameshift variant | TG/- | del | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | 1 | 156864394 | missense variant | C/A;T | snv | 4.0E-06; 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 156868651 | splice region variant | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 156876128 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 1 | 156879276 | missense variant | C/T | snv | 1.6E-05 | 0.700 | 0 |