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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 1.000 | 1 | 161305924 | missense variant | A/C | snv | 0.700 | 0 | |||||||||
|
2 | 0.925 | 0.080 | 9 | 92080044 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 19 | 10812315 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
13 | 0.752 | 0.200 | 11 | 62702493 | missense variant | G/A;C | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
14 | 0.807 | 0.160 | 1 | 173831632 | splice donor variant | T/A;C;G | snv | 8.0E-06; 3.3E-04; 4.0E-06 | 0.700 | 0 | |||||||
|
14 | 0.807 | 0.160 | 1 | 173828312 | non coding transcript exon variant | TT/C | delins | 0.700 | 0 | ||||||||
|
35 | 0.716 | 0.320 | 9 | 97687208 | inframe deletion | ATTCTT/- | delins | 0.700 | 0 | ||||||||
|
28 | 0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
27 | 0.827 | 0.160 | 2 | 27312255 | non coding transcript exon variant | A/C | snv | 8.0E-06 | 2.1E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 21 | 45990827 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
38 | 0.742 | 0.280 | 22 | 38113561 | missense variant | G/A | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
41 | 0.716 | 0.520 | 16 | 89546737 | missense variant | C/T | snv | 2.9E-03 | 3.5E-03 | 0.700 | 0 | ||||||
|
35 | 0.716 | 0.320 | 9 | 97675476 | frameshift variant | AGTCTTACGGTACA/- | delins | 6.8E-05 | 6.3E-05 | 0.700 | 0 | ||||||
|
9 | 0.807 | 0.080 | 5 | 149026872 | stop gained | G/A | snv | 7.5E-04; 4.0E-06 | 6.6E-04 | 0.700 | 0 | ||||||
|
4 | 0.925 | 0.080 | 5 | 149006955 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.160 | 18 | 31595128 | inframe insertion | -/AGTCTG | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
16 | 0.742 | 0.280 | 20 | 25339320 | frameshift variant | TCTTCCTCAGGCG/- | del | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 2 | 27313058 | missense variant | C/T | snv | 2.4E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.160 | 3 | 193614929 | missense variant | A/G | snv | 4.0E-04 | 1.1E-03 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
10 | 0.790 | 0.080 | 8 | 24956223 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 2 | 95053409 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 |