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 | 1 | 173903962 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 173909737 | frameshift variant | CT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 173909681 | frameshift variant | TCCA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 173911923 | missense variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 173903973 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 173914564 | missense variant | G/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 173914696 | missense variant | G/A | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 173914795 | missense variant | G/A | snv | 2.0E-05 | 7.0E-06 | 0.800 | 0 | ||||||
|
26 | 0.695 | 0.480 | 4 | 55346393 | stop gained | G/A | snv | 1.2E-04 | 2.8E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 1 | 173911974 | missense variant | T/G | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 1 | 173911959 | inframe deletion | AAG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 173909645 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 173914677 | missense variant | T/C | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 1 | 173914725 | missense variant | C/T | snv | 9.5E-05 | 1.7E-04 | 0.800 | 1.000 | 26 | 1984 | 2017 | |||
|
1 | 1.000 | 0.080 | 1 | 173914743 | missense variant | G/A | snv | 8.2E-04 | 9.0E-04 | 0.800 | 1.000 | 27 | 1986 | 2019 | |||
|
1 | 1.000 | 0.080 | 1 | 173903978 | missense variant | C/T | snv | 0.800 | 1.000 | 23 | 1986 | 2013 | |||||
|
1 | 1.000 | 0.080 | 1 | 173914726 | missense variant | G/A;T | snv | 4.8E-05 | 0.800 | 1.000 | 22 | 1986 | 2019 | ||||
|
1 | 1.000 | 0.080 | 1 | 173904038 | missense variant | C/A;G | snv | 8.9E-04 | 0.800 | 1.000 | 21 | 1986 | 2013 | ||||
|
1 | 1.000 | 0.080 | 1 | 173904010 | missense variant | C/G;T | snv | 4.0E-06 | 0.800 | 1.000 | 21 | 1986 | 2013 | ||||
|
1 | 1.000 | 0.080 | 1 | 173904007 | missense variant | G/A;C | snv | 0.800 | 1.000 | 21 | 1986 | 2013 | |||||
|
1 | 1.000 | 0.080 | 1 | 173904011 | missense variant | G/A | snv | 4.0E-06 | 0.800 | 1.000 | 21 | 1986 | 2013 | ||||
|
1 | 1.000 | 0.080 | 1 | 173903968 | missense variant | G/A | snv | 0.800 | 1.000 | 21 | 1986 | 2013 | |||||
|
1 | 1.000 | 0.080 | 1 | 173904044 | missense variant | C/T | snv | 0.800 | 1.000 | 21 | 1986 | 2013 | |||||
|
1 | 1.000 | 0.080 | 1 | 173914845 | missense variant | A/T | snv | 0.800 | 1.000 | 21 | 1986 | 2013 | |||||
|
1 | 1.000 | 0.080 | 1 | 173903902 | missense variant | G/A | snv | 0.800 | 1.000 | 21 | 1986 | 2013 |