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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.882 | 0.120 | 3 | 38603758 | missense variant | C/T | snv | 2.9E-04 | 2.9E-04 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.120 | 3 | 38551243 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 3 | 38557268 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 38622414 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 38555727 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 38556566 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.120 | 3 | 38604035 | missense variant | G/A;T | snv | 8.4E-06; 4.2E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 3 | 38620838 | splice donor variant | -/TT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 38560202 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 3 | 38550984 | protein altering variant | -/CAT | delins | 0.700 | 0 | ||||||||
|
11 | 0.763 | 0.120 | 3 | 38575385 | missense variant | C/T | snv | 5.4E-03 | 2.2E-03 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 3 | 38554345 | missense variant | G/A;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 3 | 38598998 | missense variant | G/A | snv | 4.0E-05 | 1.9E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 3 | 38622447 | stop gained | G/A;T | snv | 1.5E-04 | 3.5E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.080 | 3 | 38599005 | frameshift variant | G/- | delins | 1.4E-05 | 0.700 | 0 | |||||||
|
9 | 0.763 | 0.120 | 3 | 38550500 | stop gained | G/A | snv | 4.5E-05 | 4.9E-05 | 0.700 | 0 | ||||||
|
4 | 0.851 | 0.120 | 3 | 38614063 | stop gained | A/C;T | snv | 4.7E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 3 | 38620842 | splice donor variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 3 | 38560250 | inframe deletion | GTT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 38551015 | frameshift variant | AG/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 38609824 | missense variant | G/A;C | snv | 0.800 | 1.000 | 26 | 1998 | 2017 | |||||
|
1 | 1.000 | 0.080 | 3 | 38550602 | missense variant | C/T | snv | 6.0E-05 | 2.8E-05 | 0.800 | 1.000 | 25 | 1998 | 2016 | |||
|
3 | 0.882 | 0.120 | 3 | 38597787 | missense variant | G/A;C;T | snv | 4.0E-06 | 0.800 | 1.000 | 25 | 1998 | 2017 | ||||
|
4 | 0.851 | 0.120 | 3 | 38560170 | missense variant | C/T | snv | 0.800 | 1.000 | 25 | 1998 | 2017 | |||||
|
1 | 1.000 | 0.080 | 3 | 38609788 | missense variant | C/T | snv | 4.0E-06; 2.4E-05 | 3.5E-05 | 0.700 | 1.000 | 25 | 1998 | 2017 |