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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | ||||
|
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 | |||
|
1 | 1.000 | 0.080 | 20 | 58905474 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
4 | 0.925 | 0.080 | 9 | 35801153 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
9 | 0.882 | 0.080 | 16 | 68337496 | frameshift variant | AG/- | delins | 0.700 | 0 | ||||||||
|
9 | 0.882 | 0.080 | 16 | 68347257 | frameshift variant | -/GCTCTCCG | delins | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.080 | 6 | 35503763 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 9 | 91726603 | stop gained | G/A | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
15 | 0.827 | 0.120 | 11 | 103220720 | missense variant | A/G | snv | 2.4E-04 | 2.6E-04 | 0.700 | 0 | ||||||
|
16 | 0.827 | 0.120 | 12 | 45850644 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
7 | 0.882 | 0.120 | X | 72572657 | frameshift variant | GG/- | delins | 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 | |||||||
|
5 | 0.882 | 0.120 | 5 | 37044480 | missense variant | G/C;T | snv | 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 | |||||||
|
7 | 0.790 | 0.120 | 10 | 121520085 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.882 | 0.160 | 15 | 76574190 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
10 | 0.827 | 0.160 | 19 | 52213076 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
10 | 0.851 | 0.160 | 17 | 7403143 | frameshift variant | CACTCAGAGCCTGGTAGTAAAA/- | del | 0.700 | 0 | ||||||||
|
8 | 0.827 | 0.160 | X | 13756600 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.200 | 8 | 115418359 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
13 | 0.763 | 0.200 | 7 | 41964641 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
13 | 0.776 | 0.200 | 2 | 232485937 | stop gained | -/T | delins | 0.700 | 0 |