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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.200 | 3 | 37008905 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.240 | 2 | 47408486 | inframe deletion | GAAGTT/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.280 | 17 | 61799125 | stop gained | G/A;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
8 | 0.807 | 0.280 | 17 | 7675157 | missense variant | G/A | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
9 | 0.807 | 0.200 | 3 | 36996701 | missense variant | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | 3 | 37020312 | stop gained | T/C;G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.160 | 3 | 37017521 | stop gained | C/G | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.160 | 2 | 47806588 | stop gained | -/TCAAAAGGGACATAGAAAA | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.851 | 0.160 | 3 | 37004444 | missense variant | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.851 | 0.240 | 2 | 47466718 | missense variant | G/A;C;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.200 | 2 | 47803678 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 2 | 47429865 | frameshift variant | -/TT | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.160 | 2 | 47800829 | frameshift variant | AG/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 10 | 87933103 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 18 | 51058435 | frameshift variant | CCCCATCCCG/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 10 | 86892181 | frameshift variant | -/TTAG | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 21304500 | missense variant | T/C;G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
36 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 0.100 | 0.800 | 10 | 1997 | 2004 | |||||
|
42 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.800 | 0.800 | 10 | 1997 | 2004 | |||
|
3 | 0.925 | 0.080 | 11 | 108227656 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
4 | 0.925 | 0.080 | 7 | 45914866 | missense variant | G/A | snv | 1.1E-02 | 9.9E-03 | 0.010 | 1.000 | 1 | 1998 | 1998 | |||
|
14 | 0.752 | 0.200 | 7 | 45921046 | missense variant | G/A;C;T | snv | 0.38 | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||
|
3 | 0.925 | 0.080 | 17 | 37284932 | missense variant | C/T | snv | 4.0E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 1998 | 1998 | |||
|
3 | 0.925 | 0.080 | 8 | 85477151 | missense variant | C/A;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||
|
5 | 0.851 | 0.120 | 20 | 37403359 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2000 | 2000 |