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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.882 | 0.200 | 2 | 47416399 | missense variant | C/G;T | snv | 0.800 | 1.000 | 42 | 1994 | 2017 | |||||
|
3 | 0.882 | 0.160 | 2 | 47410245 | missense variant | T/C;G | snv | 0.800 | 1.000 | 37 | 1994 | 2017 | |||||
|
5 | 0.925 | 0.160 | 2 | 47476451 | missense variant | G/A;T | snv | 0.800 | 1.000 | 37 | 1994 | 2017 | |||||
|
1 | 1.000 | 0.160 | 2 | 47410209 | missense variant | T/A;C | snv | 0.800 | 1.000 | 36 | 1994 | 2017 | |||||
|
3 | 0.925 | 0.160 | 2 | 47410215 | missense variant | T/A;C;G | snv | 4.0E-06 | 0.800 | 1.000 | 36 | 1994 | 2017 | ||||
|
6 | 0.925 | 0.160 | 2 | 47410211 | missense variant | G/A | snv | 0.800 | 1.000 | 29 | 1994 | 2016 | |||||
|
4 | 0.925 | 0.160 | 2 | 47480816 | stop gained | C/A;T | snv | 8.0E-06 | 0.800 | 1.000 | 21 | 2001 | 2017 | ||||
|
15 | 0.742 | 0.280 | 2 | 47475171 | missense variant | G/A;C | snv | 1.6E-05 | 0.800 | 1.000 | 20 | 2001 | 2017 | ||||
|
4 | 0.925 | 0.160 | 2 | 47475130 | missense variant | C/A;G;T | snv | 0.800 | 1.000 | 17 | 2001 | 2017 | |||||
|
3 | 0.925 | 0.160 | 2 | 47475180 | missense variant | C/T | snv | 0.800 | 1.000 | 17 | 2001 | 2017 | |||||
|
6 | 0.851 | 0.240 | 2 | 47466718 | missense variant | G/A;C;T | snv | 8.0E-06 | 0.800 | 1.000 | 14 | 2001 | 2017 | ||||
|
4 | 0.925 | 0.160 | 2 | 47416351 | missense variant | G/A | snv | 0.800 | 1.000 | 10 | 2003 | 2017 | |||||
|
4 | 0.925 | 0.160 | 2 | 47476435 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 37 | 1994 | 2017 | |||||
|
1 | 1.000 | 0.160 | 2 | 47480770 | missense variant | A/C;G | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 37 | 1994 | 2017 | ||||
|
1 | 1.000 | 0.160 | 2 | 47475093 | missense variant | C/A;T | snv | 0.700 | 1.000 | 36 | 1994 | 2017 | |||||
|
2 | 1.000 | 0.160 | 2 | 47475198 | stop gained | C/G;T | snv | 1.2E-05 | 0.700 | 1.000 | 36 | 1994 | 2017 | ||||
|
2 | 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 | 1.000 | 0.160 | 2 | 47403329 | missense variant | C/G;T | snv | 2.2E-04 | 1.8E-04 | 0.700 | 1.000 | 36 | 1994 | 2017 | |||
|
2 | 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 | 1.000 | 0.160 | 2 | 47475151 | missense variant | A/G | snv | 1.2E-03 | 4.1E-04 | 0.700 | 1.000 | 36 | 1994 | 2017 | |||
|
1 | 1.000 | 0.160 | 2 | 47416321 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 36 | 1994 | 2017 | ||||
|
1 | 1.000 | 0.160 | 2 | 47480737 | missense variant | G/A | snv | 9.9E-05 | 7.7E-05 | 0.700 | 1.000 | 36 | 1994 | 2017 | |||
|
3 | 0.925 | 0.160 | 2 | 47476448 | missense variant | C/T | snv | 0.700 | 1.000 | 34 | 1994 | 2017 | |||||
|
2 | 0.925 | 0.160 | 2 | 47476382 | missense variant | G/A;C | snv | 0.700 | 1.000 | 34 | 1994 | 2017 | |||||
|
1 | 1.000 | 0.160 | 2 | 47478303 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 34 | 1994 | 2017 |