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 | 17 | 42909365 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 | 0.710 | 1.000 | 21 | 1994 | 2007 | |||
|
8 | 0.807 | 0.240 | 17 | 42903947 | missense variant | C/T | snv | 5.7E-04 | 3.4E-04 | 0.710 | 1.000 | 2 | 2007 | 2014 | |||
|
2 | 0.925 | 0.080 | 17 | 42903948 | missense variant | G/A | snv | 4.4E-05 | 1.4E-05 | 0.710 | 1.000 | 2 | 2000 | 2014 | |||
|
2 | 0.925 | 0.080 | 17 | 42900989 | missense variant | A/G;T | snv | 8.0E-06 | 0.700 | 1.000 | 21 | 1994 | 2014 | ||||
|
2 | 0.925 | 0.080 | 17 | 42901105 | missense variant | T/C | snv | 0.700 | 1.000 | 21 | 1994 | 2014 | |||||
|
2 | 0.925 | 0.080 | 17 | 42904028 | missense variant | G/A | snv | 6.4E-05 | 3.5E-05 | 0.700 | 1.000 | 21 | 1994 | 2014 | |||
|
2 | 0.925 | 0.080 | 17 | 42907552 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 21 | 1994 | 2014 | ||||
|
2 | 0.925 | 0.080 | 17 | 42909407 | stop gained | G/A;T | snv | 0.700 | 1.000 | 21 | 1994 | 2014 | |||||
|
3 | 0.925 | 0.080 | 17 | 42909353 | missense variant | T/C;G | snv | 0.700 | 1.000 | 21 | 1994 | 2014 | |||||
|
1 | 1.000 | 0.080 | 17 | 42900890 | missense variant | T/G | snv | 4.0E-06 | 2.1E-05 | 0.700 | 1.000 | 21 | 1994 | 2014 | |||
|
1 | 1.000 | 0.080 | 17 | 42900923 | missense variant | C/G | snv | 0.700 | 1.000 | 21 | 1994 | 2014 | |||||
|
1 | 1.000 | 0.080 | 17 | 42911144 | missense variant | C/A | snv | 0.700 | 1.000 | 21 | 1994 | 2014 | |||||
|
2 | 0.925 | 0.080 | 17 | 42911364 | missense variant | G/A;T | snv | 5.2E-05; 1.2E-05 | 0.700 | 1.000 | 21 | 1994 | 2014 | ||||
|
2 | 0.925 | 0.080 | 17 | 42911374 | missense variant | T/A | snv | 2.8E-05 | 0.700 | 1.000 | 21 | 1994 | 2014 | ||||
|
5 | 0.851 | 0.160 | 17 | 42909418 | missense variant | G/A;C | snv | 1.6E-05; 5.2E-05 | 0.700 | 1.000 | 21 | 1994 | 2014 | ||||
|
3 | 0.925 | 0.080 | 17 | 42911161 | missense variant | G/T | snv | 8.0E-06 | 2.1E-05 | 0.700 | 1.000 | 21 | 1994 | 2014 | |||
|
2 | 0.925 | 0.080 | 17 | 42911235 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 | 0.700 | 1.000 | 20 | 1994 | 2004 | |||
|
1 | 1.000 | 0.080 | 17 | 42904032 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 20 | 1994 | 2004 | ||||
|
1 | 1.000 | 0.080 | 17 | 42911318 | missense variant | C/A | snv | 1.4E-05 | 0.700 | 1.000 | 20 | 1994 | 2004 | ||||
|
1 | 1.000 | 0.080 | 17 | 42907538 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 20 | 1994 | 2004 | ||||
|
1 | 1.000 | 0.080 | 17 | 42911016 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 20 | 1994 | 2004 | ||||
|
1 | 1.000 | 0.080 | 17 | 42907547 | missense variant | G/A | snv | 1.6E-05 | 0.700 | 1.000 | 20 | 1994 | 2004 | ||||
|
1 | 1.000 | 0.080 | 17 | 42910915 | missense variant | G/A | snv | 8.0E-06 | 0.700 | 1.000 | 20 | 1994 | 2004 | ||||
|
1 | 1.000 | 0.080 | 17 | 42900922 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 0.700 | 1.000 | 20 | 1994 | 2004 | |||
|
1 | 1.000 | 0.080 | 17 | 42909388 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 20 | 1994 | 2004 |