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 | 5 | 173233011 | missense variant | G/A | snv | 0.800 | 1.000 | 5 | 1998 | 2005 | ||||||
|
1 | 1.000 | 5 | 173232976 | missense variant | G/A | snv | 0.800 | 1.000 | 5 | 1998 | 2005 | ||||||
|
2 | 0.925 | 5 | 173232648 | missense variant | T/C | snv | 0.800 | 1.000 | 5 | 1998 | 2005 | ||||||
|
1 | 1.000 | 5 | 173235040 | missense variant | T/A | snv | 0.800 | 1.000 | 5 | 1998 | 2005 | ||||||
|
1 | 1.000 | 5 | 173233164 | missense variant | G/C;T | snv | 4.3E-06 | 0.800 | 1.000 | 5 | 1998 | 2005 | |||||
|
2 | 0.925 | 0.080 | 5 | 173232888 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 5 | 1998 | 2005 | ||||
|
6 | 0.807 | 0.160 | 5 | 173235023 | missense variant | C/G | snv | 1.1E-03 | 7.1E-04 | 0.700 | 1.000 | 5 | 1998 | 2005 | |||
|
2 | 0.925 | 0.080 | 5 | 173232898 | missense variant | G/A | snv | 4.4E-06 | 0.700 | 1.000 | 5 | 1998 | 2005 | ||||
|
1 | 1.000 | 5 | 173232708 | missense variant | G/A | snv | 4.1E-06 | 0.700 | 1.000 | 5 | 1998 | 2005 | |||||
|
4 | 0.851 | 0.080 | 5 | 173232997 | missense variant | T/C | snv | 0.700 | 1.000 | 5 | 1998 | 2005 | |||||
|
1 | 1.000 | 5 | 173232721 | missense variant | G/A;C;T | snv | 4.2E-06; 9.7E-05 | 0.700 | 1.000 | 5 | 1998 | 2005 | |||||
|
1 | 1.000 | 5 | 173234896 | missense variant | G/A;T | snv | 1.8E-05; 4.4E-06 | 0.700 | 1.000 | 5 | 1998 | 2005 | |||||
|
1 | 1.000 | 5 | 173234933 | missense variant | A/G | snv | 4.2E-06 | 0.700 | 1.000 | 5 | 1998 | 2005 | |||||
|
1 | 1.000 | 5 | 173232868 | missense variant | C/T | snv | 4.3E-06 | 0.700 | 1.000 | 5 | 1998 | 2005 | |||||
|
1 | 1.000 | 5 | 173234951 | missense variant | A/C;G | snv | 4.2E-06 | 0.700 | 1.000 | 5 | 1998 | 2005 | |||||
|
1 | 1.000 | 5 | 173233168 | frameshift variant | -/T | delins | 0.700 | 1.000 | 4 | 1998 | 2011 | ||||||
|
1 | 1.000 | 5 | 173234921 | frameshift variant | CCTCTGGCTTGAAGGCG/AGGAGGC | delins | 0.700 | 1.000 | 4 | 1998 | 2011 | ||||||
|
1 | 1.000 | 5 | 173232938 | frameshift variant | CA/- | del | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||||
|
1 | 1.000 | 5 | 173233036 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 5 | 173232952 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
3 | 1.000 | 5 | 173232776 | stop gained | A/C;T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 5 | 173233147 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
|
2 | 0.925 | 0.080 | 5 | 173235019 | missense variant | T/C;G | snv | 1.3E-04; 4.1E-06 | 0.700 | 0 | |||||||
|
17 | 0.708 | 0.280 | 5 | 173235011 | missense variant | G/A | snv | 3.4E-03 | 1.1E-02 | 0.700 | 0 | ||||||
|
1 | 1.000 | 5 | 173233083 | missense variant | T/C | snv | 0.700 | 0 |