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 | 0.160 | 2 | 47482936 | missense variant | A/C | snv | 0.700 | 1.000 | 20 | 1994 | 2012 | |||||
|
1 | 1.000 | 0.160 | 2 | 47414291 | missense variant | C/T | snv | 3.0E-04 | 4.5E-04 | 0.700 | 1.000 | 20 | 1994 | 2012 | |||
|
1 | 1.000 | 0.160 | 2 | 47475052 | missense variant | A/G | snv | 3.2E-04 | 2.2E-04 | 0.700 | 1.000 | 20 | 1994 | 2012 | |||
|
1 | 1.000 | 0.160 | 2 | 47403322 | missense variant | C/A;T | snv | 4.4E-06; 4.4E-06 | 0.700 | 1.000 | 20 | 1994 | 2012 | ||||
|
1 | 1.000 | 0.160 | 2 | 47475181 | missense variant | A/G | snv | 0.700 | 1.000 | 20 | 1994 | 2012 | |||||
|
1 | 1.000 | 0.160 | 2 | 47476384 | missense variant | AAA/GCC | mnv | 0.700 | 1.000 | 20 | 1994 | 2012 | |||||
|
1 | 1.000 | 0.160 | 2 | 47480753 | missense variant | A/G | snv | 2.4E-05 | 4.2E-05 | 0.700 | 1.000 | 20 | 1994 | 2012 | |||
|
1 | 1.000 | 0.160 | 2 | 47410162 | missense variant | T/G | snv | 3.2E-04 | 3.1E-04 | 0.700 | 1.000 | 20 | 1994 | 2012 | |||
|
1 | 1.000 | 0.160 | 2 | 47410226 | missense variant | G/C | snv | 8.7E-05 | 7.0E-05 | 0.700 | 1.000 | 20 | 1994 | 2012 | |||
|
1 | 1.000 | 0.160 | 2 | 47403325 | missense variant | C/T | snv | 4.4E-06 | 0.700 | 1.000 | 20 | 1994 | 2012 | ||||
|
1 | 1.000 | 0.160 | 2 | 47482801 | missense variant | A/G | snv | 0.700 | 1.000 | 20 | 1994 | 2012 | |||||
|
1 | 1.000 | 0.160 | 2 | 47414323 | missense variant | G/T | snv | 4.0E-06 | 0.700 | 1.000 | 20 | 1994 | 2012 | ||||
|
1 | 1.000 | 0.160 | 2 | 47403195 | missense variant | G/A | snv | 1.5E-04 | 7.7E-05 | 0.700 | 1.000 | 20 | 1994 | 2012 | |||
|
2 | 0.925 | 0.160 | 2 | 47466663 | missense variant | G/T | snv | 0.700 | 1.000 | 20 | 1994 | 2012 | |||||
|
1 | 1.000 | 0.160 | 2 | 47416357 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 20 | 1994 | 2012 | ||||
|
1 | 1.000 | 0.160 | 2 | 47475072 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 20 | 1994 | 2012 | |||||
|
2 | 0.925 | 0.160 | 2 | 47410232 | missense variant | A/G | snv | 4.7E-04 | 1.3E-04 | 0.700 | 1.000 | 20 | 1994 | 2012 | |||
|
1 | 1.000 | 0.160 | 2 | 47416359 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 17 | 2001 | 2017 | ||||
|
1 | 1.000 | 0.160 | 2 | 47403288 | missense variant | A/C;G | snv | 6.7E-05; 1.3E-05 | 0.700 | 1.000 | 17 | 2001 | 2017 | ||||
|
1 | 0.790 | 0.240 | 2 | 47410107 | missense variant | A/C;G;T | snv | 5.8E-03 | 0.700 | 1.000 | 16 | 2001 | 2017 | ||||
|
1 | 1.000 | 0.160 | 2 | 47471051 | missense variant | A/C;G;T | snv | 8.0E-06; 1.0E-04; 1.2E-05 | 0.700 | 1.000 | 16 | 2001 | 2017 | ||||
|
1 | 1.000 | 0.160 | 2 | 47476425 | missense variant | G/A | snv | 3.2E-05 | 7.0E-06 | 0.700 | 1.000 | 16 | 2001 | 2017 | |||
|
1 | 1.000 | 0.160 | 2 | 47480795 | missense variant | A/C;G | snv | 1.2E-05; 4.0E-06 | 0.700 | 1.000 | 16 | 2001 | 2017 | ||||
|
1 | 1.000 | 0.160 | 2 | 47475270 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 16 | 2001 | 2017 | |||||
|
1 | 1.000 | 0.160 | 2 | 47466801 | missense variant | A/C;G | snv | 0.700 | 1.000 | 14 | 2001 | 2017 |