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 | 173914795 | missense variant | G/A | snv | 2.0E-05 | 7.0E-06 | 0.800 | 0 | ||||||
|
1 | 1.000 | 0.080 | 1 | 173914872 | missense variant | A/T | snv | 1.8E-03 | 1.7E-03 | 0.710 | 1.000 | 0 | 2016 | 2016 | |||
|
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 | 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 | 0.120 | 1 | 173903969 | missense variant | G/A;T | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 1 | 173907528 | intron variant | C/G;T | snv | 2.8E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 1 | 173909900 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.080 | 1 | 173911942 | stop gained | G/A | snv | 0.700 | 1.000 | 2 | 1991 | 2013 | |||||
|
1 | 1.000 | 0.080 | 1 | 173911941 | missense variant | C/A;T | snv | 1.6E-05; 4.0E-06 | 0.800 | 1.000 | 20 | 1986 | 2013 | ||||
|
1 | 1.000 | 0.080 | 1 | 173911987 | missense variant | T/C | snv | 8.0E-06 | 0.700 | 1.000 | 20 | 1986 | 2013 | ||||
|
1 | 1.000 | 0.080 | 1 | 173904028 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 20 | 1986 | 2013 | |||
|
1 | 1.000 | 0.080 | 1 | 173910764 | missense variant | A/G | snv | 0.700 | 1.000 | 20 | 1986 | 2013 | |||||
|
1 | 1.000 | 0.080 | 1 | 173911830 | missense variant | T/C | snv | 4.0E-06 | 0.700 | 1.000 | 20 | 1986 | 2013 | ||||
|
1 | 1.000 | 0.080 | 1 | 173910875 | missense variant | G/T | snv | 0.700 | 1.000 | 20 | 1986 | 2013 | |||||
|
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 |