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 | 0.925 | 0.080 | 12 | 5981988 | missense variant | C/A | snv | 0.800 | 1.000 | 3 | 1994 | 2000 | |||||
|
3 | 0.882 | 0.080 | 12 | 6018443 | stop gained | G/A;T | snv | 5.6E-05 | 0.720 | 1.000 | 2 | 2010 | 2013 | ||||
|
1 | 1.000 | 0.080 | 12 | 5949823 | missense variant | C/T | snv | 8.0E-06 | 0.710 | 1.000 | 4 | 1994 | 2004 | ||||
|
1 | 1.000 | 0.080 | 12 | 5994484 | missense variant | G/A;T | snv | 1.3E-02 | 0.700 | 1.000 | 3 | 1994 | 2000 | ||||
|
1 | 1.000 | 0.080 | 12 | 5969304 | missense variant | T/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 3 | 1994 | 2000 | |||
|
3 | 0.882 | 0.080 | 12 | 6075392 | missense variant | G/A | snv | 2.8E-05; 8.0E-06 | 4.2E-05 | 0.700 | 1.000 | 3 | 1994 | 2000 | |||
|
3 | 0.882 | 0.080 | 12 | 6013544 | stop gained | G/A;T | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 12 | 5969337 | stop gained | G/A | snv | 1.6E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 12 | 6071322 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 12 | 6044298 | frameshift variant | G/-;GG | delins | 6.3E-05 | 0.700 | 0 | |||||||
|
14 | 0.763 | 0.400 | 12 | 6044368 | missense variant | T/C;G | snv | 0.31 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.080 | 12 | 6025624 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 12 | 6019050 | stop gained | G/C;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 0.925 | 0.080 | 12 | 6018404 | missense variant | C/T | snv | 4.1E-04 | 1.7E-04 | 0.010 | 1.000 | 1 | 1996 | 1996 | |||
|
1 | 1.000 | 0.080 | 12 | 5949195 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.080 | 12 | 6075386 | missense variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.080 | 12 | 6121245 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 1996 | 1996 |