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 | 0.742 | 0.280 | 2 | 47475171 | missense variant | G/A;C | snv | 1.6E-05 | 0.800 | 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 | 0.851 | 0.240 | 2 | 47466718 | missense variant | G/A;C;T | snv | 8.0E-06 | 0.800 | 1.000 | 14 | 2001 | 2017 | ||||
|
1 | 0.882 | 0.200 | 2 | 47416399 | missense variant | C/G;T | snv | 0.800 | 1.000 | 37 | 1994 | 2017 | |||||
|
1 | 0.882 | 0.160 | 2 | 47410245 | missense variant | T/C;G | snv | 0.800 | 1.000 | 37 | 1994 | 2017 | |||||
|
1 | 0.882 | 0.160 | 2 | 47410220 | missense variant | T/G | snv | 0.700 | 1.000 | 34 | 1994 | 2017 | |||||
|
1 | 0.882 | 0.160 | 2 | 47482912 | missense variant | T/A | snv | 7.0E-06 | 0.700 | 1.000 | 20 | 1994 | 2012 | ||||
|
2 | 0.882 | 0.160 | 2 | 47429833 | missense variant | C/G;T | snv | 1.5E-03 | 0.700 | 0 | |||||||
|
1 | 0.882 | 0.160 | 2 | 47475064 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 0.925 | 0.160 | 2 | 47476435 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 37 | 1994 | 2017 | |||||
|
1 | 0.925 | 0.160 | 2 | 47476451 | missense variant | G/A;T | snv | 0.800 | 1.000 | 37 | 1994 | 2017 | |||||
|
1 | 0.925 | 0.200 | 2 | 47482858 | missense variant | C/G;T | snv | 8.0E-06; 8.4E-05 | 0.700 | 1.000 | 36 | 1994 | 2017 | ||||
|
1 | 0.925 | 0.160 | 2 | 47470993 | missense variant | A/G | snv | 2.3E-04 | 7.7E-05 | 0.700 | 1.000 | 36 | 1994 | 2017 | |||
|
1 | 0.925 | 0.160 | 2 | 47410215 | missense variant | T/A;C;G | snv | 4.0E-06 | 0.800 | 1.000 | 36 | 1994 | 2017 | ||||
|
1 | 0.925 | 0.160 | 2 | 47476448 | missense variant | C/T | snv | 0.700 | 1.000 | 34 | 1994 | 2017 | |||||
|
1 | 0.925 | 0.160 | 2 | 47476382 | missense variant | G/A;C | snv | 0.700 | 1.000 | 34 | 1994 | 2017 | |||||
|
1 | 0.925 | 0.160 | 2 | 47476381 | missense variant | G/A;C | snv | 0.700 | 1.000 | 34 | 1994 | 2017 | |||||
|
1 | 0.925 | 0.160 | 2 | 47410217 | missense variant | G/A;T | snv | 0.700 | 1.000 | 34 | 1994 | 2017 | |||||
|
1 | 0.925 | 0.160 | 2 | 47466807 | stop gained | A/C;G;T | snv | 0.700 | 1.000 | 34 | 1994 | 2017 | |||||
|
2 | 0.925 | 0.160 | 2 | 47466663 | missense variant | G/T | snv | 0.700 | 1.000 | 20 | 1994 | 2012 | |||||
|
1 | 0.925 | 0.160 | 2 | 47410211 | missense variant | G/A | snv | 0.800 | 1.000 | 20 | 1994 | 2016 | |||||
|
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 | 0.925 | 0.160 | 2 | 47475130 | missense variant | C/A;G;T | snv | 0.800 | 1.000 | 17 | 2001 | 2017 | |||||
|
1 | 0.925 | 0.160 | 2 | 47475180 | missense variant | C/T | snv | 0.800 | 1.000 | 17 | 2001 | 2017 | |||||
|
1 | 0.925 | 0.160 | 2 | 47480816 | stop gained | C/A;T | snv | 8.0E-06 | 0.800 | 1.000 | 17 | 2001 | 2017 |