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 | 3 | 37025932 | frameshift variant | AG/- | delins | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.200 | 2 | 47463096 | stop gained | ATGA/-;ATGAATGA | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 8 | 94399540 | missense variant | C/A | snv | 2.8E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 11 | 48123636 | missense variant | C/T | snv | 4.0E-05 | 6.3E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.080 | 7 | 77571160 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 3 | 12416825 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.280 | 7 | 140753350 | missense variant | A/C;T | snv | 0.700 | 0 | ||||||||
|
42 | 0.641 | 0.520 | 7 | 140781602 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 17 | 21303189 | missense variant | C/A;T | snv | 2.0E-05 | 0.700 | 0 | |||||||
|
9 | 0.790 | 0.240 | 22 | 28725254 | missense variant | G/A;T | snv | 5.2E-05 | 0.700 | 0 | |||||||
|
9 | 0.807 | 0.120 | 5 | 112838399 | stop gained | C/A;G;T | snv | 4.7E-04 | 0.700 | 0 | |||||||
|
24 | 0.701 | 0.240 | 17 | 48728343 | missense variant | C/T | snv | 1.8E-03 | 1.6E-03 | 0.700 | 0 | ||||||
|
3 | 1.000 | 0.080 | 3 | 37040295 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 2 | 47475097 | missense variant | T/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 3 | 37025834 | frameshift variant | CA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 7 | 5989891 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
10 | 0.807 | 0.120 | 11 | 48123823 | missense variant | A/C | snv | 0.17 | 0.15 | 0.700 | 0 | ||||||
|
6 | 0.851 | 0.200 | 2 | 47800130 | frameshift variant | TCAG/- | delins | 7.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.882 | 0.160 | 2 | 47803501 | frameshift variant | C/-;CC;CCC | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 3 | 12416831 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 | 0.700 | 0 | ||||||
|
7 | 0.827 | 0.120 | 5 | 112839979 | frameshift variant | AGAG/-;AG | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 13 | 32363187 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
33 | 0.667 | 0.360 | 22 | 28695869 | frameshift variant | G/- | del | 2.0E-03 | 1.8E-03 | 0.700 | 0 | ||||||
|
5 | 0.851 | 0.320 | 17 | 61776459 | frameshift variant | AA/-;AAAA | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 3 | 37008855 | frameshift variant | T/-;TT | delins | 0.700 | 0 |