Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1557106484 | X | 77633315 | missense variant | C/A | snv | 7 | |||||
rs1057518786 | 1.000 | 6 | 33441374 | splice region variant | G/A | snv | 5 | ||||
rs377619533 | 1.000 | 18 | 33743312 | stop gained | C/A;T | snv | 2.8E-05 | 5 | |||
rs1057516032 | 1.000 | 19 | 41970211 | protein altering variant | AGTCT/GA | delins | 4 | ||||
rs397514582 | 0.925 | 20 | 63439656 | missense variant | C/A;T | snv | 4 | ||||
rs750371878 | 0.925 | 6 | 104796666 | stop gained | G/A | snv | 4.0E-06 | 1.4E-05 | 4 | ||
rs778899140 | 0.925 | 6 | 165450268 | missense variant | T/C | snv | 4.0E-06 | 3 | |||
rs1057518794 | X | 25004777 | frameshift variant | TCTG/- | delins | 1 | |||||
rs1057519450 | 14 | 73537826 | frameshift variant | AGCCGGTGCGCGCG/- | delins | 1 | |||||
rs797046136 | 10 | 129848391 | splice donor variant | C/A | snv | 1 | |||||
rs1555889127 | 1.000 | 0.040 | 20 | 49374625 | missense variant | C/T | snv | 6 | |||
rs1057519567 | 0.882 | 0.040 | 7 | 76063554 | frameshift variant | G/- | delins | 5 | |||
rs145999922 | 0.882 | 0.040 | 2 | 227699378 | missense variant | A/G | snv | 4.4E-05 | 4.2E-05 | 4 | |
rs775835429 | 0.925 | 0.040 | 2 | 227702236 | frameshift variant | -/TC | delins | 2.4E-05 | 2.1E-05 | 4 | |
rs1057518928 | 1.000 | 0.040 | 12 | 23665471 | missense variant | G/A | snv | 3 | |||
rs1561500885 | 1.000 | 0.040 | 5 | 70946138 | missense variant | T/C | snv | 2 | |||
rs1562927768 | 0.790 | 0.080 | 7 | 105101476 | frameshift variant | AAAGA/- | delins | 15 | |||
rs1553511224 | 0.882 | 0.080 | 2 | 161423825 | frameshift variant | -/C | delins | 10 | |||
rs121434578 | 1.000 | 0.080 | 16 | 8768248 | missense variant | G/A | snv | 5 | |||
rs1561498701 | 1.000 | 0.080 | 5 | 70925150 | frameshift variant | -/GGATTCCG | delins | 5 | |||
rs724159990 | 1.000 | 0.080 | 16 | 8768220 | missense variant | C/T | snv | 5 | |||
rs724159991 | 1.000 | 0.080 | 16 | 8781360 | missense variant | T/C | snv | 5 | |||
rs724159992 | 1.000 | 0.080 | 16 | 8750498 | missense variant | G/A | snv | 1.4E-05 | 5 | ||
rs1057516031 | 1.000 | 0.080 | X | 150598681 | stop gained | G/T | snv | 3 | |||
rs1555736565 | 0.925 | 0.080 | 19 | 13230191 | missense variant | C/A;T | snv | 3 |