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 | 0.160 | 6 | 31862079 | missense variant | A/C | snv | 0.800 | 1.000 | 9 | 1996 | 2014 | |||||
|
1 | 1.000 | 0.160 | 6 | 31860458 | missense variant | A/T | snv | 1.2E-05 | 1.4E-05 | 0.700 | 1.000 | 9 | 1996 | 2014 | |||
|
2 | 0.925 | 0.160 | 6 | 31860519 | missense variant | A/G | snv | 1.4E-05 | 0.800 | 1.000 | 9 | 1996 | 2014 | ||||
|
2 | 0.925 | 0.160 | 6 | 31860117 | missense variant | G/A | snv | 4.1E-06 | 0.700 | 1.000 | 9 | 1996 | 2014 | ||||
|
1 | 1.000 | 0.160 | 6 | 31860563 | missense variant | C/A;G;T | snv | 8.0E-06; 4.0E-06 | 0.800 | 1.000 | 9 | 1996 | 2014 | ||||
|
1 | 1.000 | 0.160 | 6 | 31860170 | missense variant | G/A;C | snv | 4.1E-05 | 0.800 | 1.000 | 9 | 1996 | 2014 | ||||
|
3 | 0.882 | 0.160 | 6 | 31860510 | missense variant | C/T | snv | 8.0E-06 | 0.710 | 1.000 | 10 | 1996 | 2014 | ||||
|
1 | 1.000 | 0.160 | 6 | 31862690 | stop gained | C/G;T | snv | 8.2E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | 6 | 31862112 | missense variant | G/A | snv | 2.4E-05 | 7.0E-06 | 0.800 | 1.000 | 9 | 1996 | 2014 | |||
|
1 | 1.000 | 0.160 | 6 | 31862708 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 6 | 31859858 | missense variant | T/C | snv | 4.1E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 6 | 31860183 | missense variant | G/A;T | snv | 4.1E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | 6 | 31859879 | missense variant | A/G | snv | 7.0E-06 | 0.800 | 0 | |||||||
|
3 | 0.882 | 0.160 | 6 | 31860588 | missense variant | C/T | snv | 5.6E-05 | 1.7E-04 | 0.700 | 1.000 | 9 | 1996 | 2014 | |||
|
3 | 0.882 | 0.160 | 6 | 31861259 | missense variant | T/C;G | snv | 1.1E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 6 | 31860081 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 | 0.700 | 1.000 | 9 | 1996 | 2014 | |||
|
2 | 0.925 | 0.320 | 6 | 31859797 | stop gained | G/A;C;T | snv | 4.5E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 6 | 31860059 | missense variant | G/C;T | snv | 4.1E-06; 4.1E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 6 | 31860042 | stop gained | G/A;C | snv | 8.1E-06; 2.0E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 6 | 31860581 | missense variant | C/G;T | snv | 4.0E-06 | 0.700 | 1.000 | 9 | 1996 | 2014 | ||||
|
1 | 1.000 | 0.160 | 6 | 31860545 | missense variant | A/T | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 9 | 1996 | 2014 | |||
|
2 | 0.925 | 0.160 | 6 | 31860558 | missense variant | C/T | snv | 2.0E-05 | 7.0E-06 | 0.700 | 1.000 | 9 | 1996 | 2014 | |||
|
2 | 0.925 | 0.320 | 6 | 31861452 | splice acceptor variant | T/C;G | snv | 0.700 | 0 |