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 | 0.080 | 6 | 49459168 | missense variant | T/C | snv | 4.0E-06 | 0.800 | 1.000 | 20 | 1990 | 2017 | ||||
|
1 | 1.000 | 0.080 | 6 | 49457753 | missense variant | A/T | snv | 0.800 | 1.000 | 20 | 1990 | 2017 | |||||
|
1 | 1.000 | 0.080 | 6 | 49451701 | missense variant | T/C | snv | 0.800 | 1.000 | 20 | 1990 | 2017 | |||||
|
1 | 1.000 | 0.080 | 6 | 49447677 | missense variant | A/G | snv | 0.800 | 1.000 | 20 | 1990 | 2017 | |||||
|
1 | 1.000 | 0.080 | 6 | 49435526 | missense variant | A/C | snv | 7.0E-06 | 0.800 | 1.000 | 20 | 1990 | 2017 | ||||
|
1 | 1.000 | 0.080 | 6 | 49459089 | missense variant | G/T | snv | 0.800 | 1.000 | 20 | 1990 | 2017 | |||||
|
1 | 1.000 | 0.080 | 6 | 49458047 | missense variant | C/T | snv | 0.800 | 1.000 | 20 | 1990 | 2017 | |||||
|
1 | 1.000 | 0.080 | 6 | 49458029 | missense variant | C/T | snv | 0.800 | 1.000 | 20 | 1990 | 2017 | |||||
|
1 | 1.000 | 0.080 | 6 | 49457884 | missense variant | G/C | snv | 0.800 | 1.000 | 20 | 1990 | 2017 | |||||
|
1 | 1.000 | 0.080 | 6 | 49457755 | missense variant | G/C | snv | 0.800 | 1.000 | 20 | 1990 | 2017 | |||||
|
1 | 1.000 | 0.080 | 6 | 49456140 | missense variant | C/T | snv | 0.800 | 1.000 | 20 | 1990 | 2017 | |||||
|
1 | 1.000 | 0.080 | 6 | 49453694 | missense variant | C/T | snv | 0.800 | 1.000 | 20 | 1990 | 2017 | |||||
|
1 | 1.000 | 0.080 | 6 | 49451634 | missense variant | A/T | snv | 0.800 | 1.000 | 20 | 1990 | 2017 | |||||
|
1 | 1.000 | 0.080 | 6 | 49451527 | missense variant | G/A | snv | 0.800 | 1.000 | 20 | 1990 | 2017 | |||||
|
1 | 1.000 | 0.080 | 6 | 49444660 | missense variant | G/A | snv | 4.0E-06 | 0.800 | 1.000 | 20 | 1990 | 2017 | ||||
|
1 | 1.000 | 0.080 | 6 | 49440309 | missense variant | A/G | snv | 0.800 | 1.000 | 20 | 1990 | 2017 | |||||
|
1 | 1.000 | 0.080 | 6 | 49440288 | missense variant | T/C | snv | 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 | 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 | |||||
|
1 | 1.000 | 0.080 | 6 | 49440318 | missense variant | G/C | snv | 0.700 | 1.000 | 20 | 1990 | 2017 |