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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.160 | 1 | 162792859 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 1996 | 1996 | |||||
|
1 | 1.000 | 0.160 | 15 | 51212475 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 1999 | 1999 | |||
|
2 | 0.925 | 0.160 | 4 | 87318405 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1996 | 1996 | ||||
|
1 | 1.000 | 0.160 | 9 | 96252911 | splice acceptor variant | C/G | snv | 4.0E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.160 | 9 | 96249787 | splice acceptor variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 9 | 96251455 | inframe deletion | AAG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 9 | 96301983 | frameshift variant | TT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 2 | 48714011 | missense variant | A/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 9 | 96252805 | stop gained | A/C;G | snv | 8.0E-06; 8.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.160 | 9 | 96245373 | missense variant | G/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.200 | 1 | 119419519 | missense variant | G/A | snv | 2.0E-05 | 4.9E-05 | 0.010 | 1.000 | 1 | 1994 | 1994 | |||
|
7 | 0.790 | 0.200 | 2 | 31526224 | missense variant | C/T | snv | 2.3E-04 | 1.1E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
4 | 0.882 | 0.240 | 9 | 96254906 | missense variant | C/T | snv | 8.8E-05 | 8.4E-05 | 0.710 | 1.000 | 1 | 1996 | 1996 | |||
|
2 | 0.925 | 0.240 | 9 | 96244393 | missense variant | G/A;T | snv | 2.0E-05; 8.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.240 | 9 | 96254907 | missense variant | G/A | snv | 3.2E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.240 | 9 | 96235548 | missense variant | G/A;C | snv | 3.2E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.240 | 9 | 96254864 | splice region variant | T/A | snv | 3.4E-04 | 3.7E-04 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.240 | 9 | 96244387 | stop gained | A/T | snv | 2.8E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
3 | 0.925 | 0.240 | 9 | 96251474 | missense variant | C/T | snv | 2.0E-05 | 0.700 | 0 |