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 | 0.120 | 7 | 94418526 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 94424427 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 94410478 | missense variant | C/A;G | snv | 5.1E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 7 | 94417733 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 94425655 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 94427004 | splice acceptor variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 94427639 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 94427714 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 94408220 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 94409374 | inframe deletion | GTG/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 7 | 94409367 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 7 | 94418518 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 7 | 94423056 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 7 | 94425127 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
9 | 0.763 | 0.240 | 7 | 94426459 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 94423092 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 1990 | 1990 | |||||
|
2 | 0.925 | 0.120 | 7 | 94412593 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 1991 | 1991 | |||||
|
2 | 0.925 | 0.120 | 7 | 94408806 | missense variant | G/T | snv | 0.020 | 1.000 | 2 | 1991 | 1992 | |||||
|
1 | 1.000 | 0.120 | 7 | 94425144 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 1992 | 1992 | |||
|
2 | 0.925 | 0.120 | 7 | 94413083 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 1994 | 1994 | |||||
|
3 | 0.882 | 0.120 | 7 | 94409732 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 1994 | 1994 | |||||
|
1 | 1.000 | 0.120 | 7 | 94423024 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1996 | 1996 | ||||
|
3 | 0.882 | 0.120 | 7 | 94420604 | missense variant | G/A | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 1997 | 1997 | ||||
|
9 | 0.763 | 0.240 | 7 | 94409768 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
4 | 0.851 | 0.120 | 7 | 94409795 | missense variant | G/A;C;T | snv | 0.020 | 1.000 | 2 | 2016 | 2017 |