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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 0.790 | 0.360 | 16 | 89282836 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
16 | 0.827 | 0.120 | 12 | 45850644 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
9 | 0.776 | 0.320 | X | 77688876 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
11 | 0.776 | 0.280 | 11 | 66530934 | frameshift variant | TG/- | del | 1.4E-05 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.080 | 4 | 95152757 | missense variant | G/A;C;T | snv | 1.6E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
15 | 0.827 | 0.120 | 11 | 103220720 | missense variant | A/G | snv | 2.4E-04 | 2.6E-04 | 0.700 | 0 | ||||||
|
7 | 0.882 | 0.120 | 11 | 103116677 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.120 | 11 | 103122879 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
9 | 0.882 | 0.120 | 11 | 103120982 | stop gained | G/T | snv | 2.8E-05 | 0.700 | 0 | |||||||
|
9 | 0.882 | 0.120 | 11 | 103287559 | synonymous variant | G/A | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
7 | 0.882 | 0.120 | 11 | 103176241 | frameshift variant | AA/- | delins | 1.0E-05 | 0.700 | 0 | |||||||
|
13 | 0.776 | 0.200 | 2 | 232485937 | stop gained | -/T | delins | 0.700 | 0 | ||||||||
|
58 | 0.683 | 0.640 | 9 | 137798823 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.120 | 10 | 121520085 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
49 | 0.600 | 0.520 | 4 | 1801844 | missense variant | C/A;G;T | snv | 4.2E-06; 4.2E-06 | 0.710 | 1.000 | 1 | 1998 | 1998 | ||||
|
28 | 0.672 | 0.400 | 13 | 20189511 | stop gained | C/T | snv | 5.8E-04 | 1.1E-04 | 0.700 | 0 | ||||||
|
13 | 0.763 | 0.200 | 7 | 41964641 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 20 | 58905474 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
16 | 0.732 | 0.320 | 20 | 58891811 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
28 | 0.716 | 0.520 | 20 | 58903703 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
7 | 0.882 | 0.120 | X | 72572657 | frameshift variant | GG/- | delins | 0.700 | 0 | ||||||||
|
72 | 0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 | 0.700 | 0 | |||||||
|
5 | 0.882 | 0.120 | 5 | 37044480 | missense variant | G/C;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | 17 | 56594498 | missense variant | G/A | snv | 1.7E-03 | 1.7E-03 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
4 | 0.925 | 0.080 | 9 | 35801153 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 0 |