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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
60 | 0.689 | 0.400 | 6 | 42978878 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
16 | 0.763 | 0.360 | 16 | 68329105 | stop gained | G/C;T | snv | 4.0E-06; 1.6E-05 | 0.700 | 0 | |||||||
|
33 | 0.716 | 0.480 | 22 | 20996071 | stop gained | C/A;T | snv | 4.0E-06; 8.0E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
33 | 0.752 | 0.400 | 5 | 60927745 | intron variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
9 | 0.776 | 0.400 | 12 | 25245284 | missense variant | G/A;C | snv | 0.700 | 1.000 | 3 | 2006 | 2011 | |||||
|
5 | 0.925 | 0.120 | 5 | 37052453 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.925 | X | 72464626 | protein altering variant | TGGAG/AC | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
25 | 0.742 | 0.400 | 20 | 50894172 | frameshift variant | ACTA/- | delins | 0.700 | 0 | ||||||||
|
7 | 0.925 | 0.120 | 8 | 115604739 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
7 | 0.925 | 0.080 | 1 | 151430715 | frameshift variant | -/GATTGGCA | delins | 0.700 | 0 | ||||||||
|
9 | X | 32849737 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||||
|
4 | 0.925 | 0.120 | 3 | 48567190 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
16 | 0.732 | 0.320 | 20 | 58891811 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.120 | 12 | 47984112 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
9 | 1.000 | 0.040 | 8 | 99511424 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.040 | 19 | 38499718 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
7 | 0.851 | 0.280 | 2 | 1484815 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.080 | 9 | 35801153 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
7 | 0.925 | 0.040 | 9 | 35802550 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
8 | 0.882 | X | 110264571 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
|
13 | 0.790 | 0.280 | 17 | 31340532 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
7 | 0.882 | 0.120 | 17 | 31159091 | splice donor variant | G/- | delins | 0.700 | 0 | ||||||||
|
7 | 0.882 | 0.200 | 3 | 47846550 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 14 | 78709310 | missense variant | A/G | snv | 1.4E-05 | 0.700 | 0 | |||||||
|
11 | 0.827 | 0.240 | 22 | 41173768 | missense variant | T/C | snv | 0.700 | 0 |