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 | 11 | 116836361 | missense variant | A/C | snv | 0.800 | 1.000 | 4 | 1988 | 1994 | |||||
|
6 | 0.807 | 0.160 | 4 | 154585795 | missense variant | T/A | snv | 4.0E-06 | 7.0E-06 | 0.800 | 1.000 | 1 | 1993 | 1993 | |||
|
7 | 0.807 | 0.200 | 12 | 69350192 | missense variant | T/C | snv | 0.800 | 1.000 | 1 | 1993 | 1993 | |||||
|
8 | 0.790 | 0.240 | 15 | 44715641 | missense variant | G/A | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 4 | 154585711 | splice acceptor variant | C/A;G;T | snv | 4.0E-06; 4.4E-05 | 0.800 | 1.000 | 1 | 1993 | 1993 | ||||
|
2 | 0.925 | 0.120 | 11 | 116837053 | missense variant | C/G;T | snv | 2.8E-05 | 0.700 | 1.000 | 4 | 1988 | 1994 | ||||
|
1 | 1.000 | 0.080 | 12 | 69350224 | missense variant | G/C | snv | 0.700 | 1.000 | 1 | 1993 | 1993 | |||||
|
1 | 1.000 | 0.080 | 11 | 116836392 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 116836019 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 116836017 | missense variant | C/G;T | snv | 8.3E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.200 | 12 | 69350194 | missense variant | T/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 12 | 69350170 | missense variant | G/C | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.851 | 0.200 | 12 | 69350215 | missense variant | T/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 4 | 154585807 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 4 | 154585800 | frameshift variant | C/- | del | 0.700 | 0 |