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 | 1.000 | 10 | 43109163 | missense variant | C/T | snv | 0.800 | 1.000 | 15 | 1994 | 2011 | ||||||
|
2 | 1.000 | 10 | 43111381 | missense variant | G/A | snv | 2.7E-04 | 5.6E-05 | 0.800 | 1.000 | 15 | 1994 | 2011 | ||||
|
1 | 1.000 | 10 | 43120163 | missense variant | G/A | snv | 0.800 | 1.000 | 15 | 1994 | 2011 | ||||||
|
11 | 0.724 | 0.280 | 10 | 43113648 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06 | 0.800 | 1.000 | 15 | 1994 | 2011 | ||||
|
1 | 1.000 | 10 | 43123783 | missense variant | A/G | snv | 0.800 | 1.000 | 15 | 1994 | 2011 | ||||||
|
1 | 1.000 | 10 | 43100576 | missense variant | C/T | snv | 0.800 | 1.000 | 15 | 1994 | 2011 | ||||||
|
1 | 1.000 | 10 | 43109146 | missense variant | C/A | snv | 0.800 | 1.000 | 15 | 1994 | 2011 | ||||||
|
1 | 1.000 | 10 | 43113579 | missense variant | G/A;C | snv | 4.1E-06 | 0.700 | 1.000 | 15 | 1994 | 2011 | |||||
|
1 | 1.000 | 10 | 43109156 | missense variant | G/A | snv | 0.700 | 1.000 | 15 | 1994 | 2011 | ||||||
|
1 | 1.000 | 10 | 43126717 | missense variant | T/A;C | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 15 | 1994 | 2011 | |||||
|
1 | 1.000 | 10 | 43118436 | missense variant | A/C;G | snv | 2.0E-05; 4.0E-06 | 0.700 | 1.000 | 15 | 1994 | 2011 | |||||
|
1 | 1.000 | 10 | 43126720 | missense variant | A/G | snv | 1.2E-05 | 2.8E-05 | 0.700 | 1.000 | 15 | 1994 | 2011 | ||||
|
1 | 1.000 | 10 | 43109046 | missense variant | G/A | snv | 8.0E-06 | 0.700 | 1.000 | 15 | 1994 | 2011 | |||||
|
2 | 0.851 | 0.200 | 10 | 43102345 | missense variant | G/A | snv | 7.9E-04 | 2.9E-04 | 0.700 | 1.000 | 15 | 1994 | 2011 | |||
|
1 | 1.000 | 10 | 43106524 | missense variant | C/T | snv | 8.0E-06 | 2.1E-05 | 0.700 | 1.000 | 15 | 1994 | 2011 | ||||
|
1 | 0.925 | 0.080 | 10 | 43106446 | missense variant | G/A;T | snv | 1.2E-04 | 0.700 | 1.000 | 15 | 1994 | 2011 | ||||
|
11 | 0.672 | 0.280 | 10 | 43118460 | missense variant | A/G;T | snv | 4.0E-06; 2.1E-03 | 0.700 | 1.000 | 15 | 1994 | 2011 | ||||
|
9 | 0.732 | 0.160 | 10 | 43113649 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 15 | 1994 | 2011 | |||||
|
1 | 1.000 | 8 | 141168410 | frameshift variant | G/- | del | 0.700 | 0 | |||||||||
|
1 | 1.000 | 19 | 3193404 | stop gained | C/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 11 | 3676355 | missense variant | T/C | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 10 | 43106455 | missense variant | G/C;T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 10 | 43113672 | missense variant | C/A | snv | 4.0E-06 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 10 | 43119576 | missense variant | G/A | snv | 4.1E-06 | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 10 | 43120091 | missense variant | G/A | snv | 0.700 | 0 |