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 | 6 | 49459145 | missense variant | G/A | snv | 1.2E-04 | 1.4E-05 | 0.800 | 1.000 | 29 | 1989 | 2017 | |||
|
3 | 0.925 | 0.080 | 6 | 49459144 | missense variant | C/T | snv | 2.0E-05; 4.0E-06 | 1.4E-05 | 0.800 | 1.000 | 29 | 1989 | 2017 | |||
|
1 | 1.000 | 0.080 | 6 | 49451693 | missense variant | G/A | snv | 2.0E-05 | 4.2E-05 | 0.800 | 1.000 | 27 | 1990 | 2017 | |||
|
2 | 0.925 | 0.080 | 6 | 49440295 | missense variant | C/G;T | snv | 8.0E-06 | 4.2E-05 | 0.800 | 1.000 | 23 | 1990 | 2017 | |||
|
1 | 1.000 | 0.080 | 6 | 49440273 | missense variant | C/G;T | snv | 1.2E-05 | 2.8E-05 | 0.800 | 1.000 | 23 | 1990 | 2017 | |||
|
1 | 1.000 | 0.080 | 6 | 49440282 | missense variant | T/C | snv | 1.2E-05 | 2.1E-05 | 0.800 | 1.000 | 23 | 1990 | 2017 | |||
|
3 | 0.925 | 0.080 | 6 | 49431831 | missense variant | C/A | snv | 4.8E-05 | 2.1E-04 | 0.800 | 1.000 | 22 | 1990 | 2017 | |||
|
1 | 1.000 | 0.080 | 6 | 49459210 | missense variant | G/A;C | snv | 1.6E-05 | 7.0E-06 | 0.800 | 1.000 | 22 | 1990 | 2017 | |||
|
1 | 1.000 | 0.080 | 6 | 49457837 | missense variant | C/T | snv | 1.6E-05 | 7.0E-06 | 0.800 | 1.000 | 22 | 1990 | 2017 | |||
|
2 | 0.925 | 0.080 | 6 | 49459154 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 0.800 | 1.000 | 21 | 1990 | 2017 | |||
|
3 | 0.925 | 0.080 | 6 | 49459189 | missense variant | C/T | snv | 6.4E-05 | 4.2E-05 | 0.800 | 1.000 | 21 | 1990 | 2017 | |||
|
3 | 0.925 | 0.080 | 6 | 49457789 | missense variant | T/A | snv | 6.8E-05 | 2.8E-05 | 0.800 | 1.000 | 21 | 1990 | 2017 | |||
|
1 | 1.000 | 0.080 | 6 | 49453754 | missense variant | A/G | snv | 0.800 | 1.000 | 21 | 1990 | 2017 | |||||
|
2 | 1.000 | 0.080 | 6 | 49451518 | missense variant | C/T | snv | 2.8E-05 | 1.4E-05 | 0.800 | 1.000 | 21 | 1990 | 2017 | |||
|
1 | 1.000 | 0.080 | 6 | 49441930 | missense variant | A/G | snv | 4.0E-06 | 0.800 | 1.000 | 21 | 1990 | 2017 | ||||
|
2 | 1.000 | 0.080 | 6 | 49435500 | missense variant | G/A | snv | 2.0E-05 | 7.0E-06 | 0.800 | 1.000 | 21 | 1990 | 2017 | |||
|
1 | 1.000 | 0.080 | 6 | 49456163 | missense variant | C/A;G;T | snv | 4.0E-06; 1.2E-05 | 0.800 | 1.000 | 20 | 1990 | 2017 | ||||
|
2 | 0.925 | 0.080 | 6 | 49451668 | missense variant | G/T | snv | 1.4E-05 | 0.700 | 1.000 | 20 | 1990 | 2017 | ||||
|
2 | 0.925 | 0.080 | 6 | 49435473 | missense variant | C/G | snv | 4.0E-06 | 0.700 | 1.000 | 20 | 1990 | 2017 | ||||
|
1 | 1.000 | 0.080 | 6 | 49458001 | stop gained | G/A;C | snv | 4.1E-06; 4.1E-06 | 0.700 | 1.000 | 20 | 1990 | 2017 | ||||
|
1 | 1.000 | 0.080 | 6 | 49440319 | missense variant | G/T | snv | 4.0E-06 | 0.700 | 1.000 | 20 | 1990 | 2017 | ||||
|
1 | 1.000 | 0.080 | 6 | 49453620 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 20 | 1990 | 2017 | ||||
|
1 | 1.000 | 0.080 | 6 | 49457790 | missense variant | T/G | snv | 4.0E-06 | 1.4E-05 | 0.800 | 1.000 | 20 | 1990 | 2017 | |||
|
1 | 1.000 | 0.080 | 6 | 49459141 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 20 | 1990 | 2017 | |||
|
1 | 1.000 | 0.080 | 6 | 49440312 | missense variant | A/C | snv | 0.700 | 1.000 | 20 | 1990 | 2017 |