Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs13063578 | 3 | 47046347 | intron variant | T/A | snv | 0.46 | 5 | ||||
rs1057523157 | 0.925 | 0.120 | 3 | 47088172 | missense variant | G/A | snv | 3 | |||
rs1559720382 | 1.000 | 3 | 47101476 | missense variant | T/C | snv | 2 | ||||
rs2290547 | 3 | 47019693 | intron variant | G/A;C | snv | 2 | |||||
rs114151323 | 3 | 47142565 | intron variant | C/T | snv | 1.2E-02 | 1 | ||||
rs1169288572 | 1.000 | 0.040 | 3 | 47122237 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 1 | |
rs1454647589 | 1.000 | 0.120 | 3 | 47124452 | missense variant | T/C | snv | 6.4E-06 | 1 | ||
rs1478147351 | 1.000 | 0.120 | 3 | 47101485 | missense variant | G/A | snv | 7.0E-06 | 1 | ||
rs1553699115 | 1.000 | 3 | 47116749 | splice acceptor variant | TTCT/- | delins | 1 | ||||
rs17784127 | 3 | 47020210 | intron variant | T/C | snv | 0.35 | 1 | ||||
rs186148199 | 1.000 | 0.120 | 3 | 47123837 | missense variant | C/T | snv | 8.9E-05 | 3.5E-05 | 1 | |
rs188887061 | 1.000 | 0.120 | 3 | 47122353 | missense variant | C/T | snv | 4.2E-04 | 7.0E-05 | 1 | |
rs375501235 | 1.000 | 0.120 | 3 | 47122189 | missense variant | A/T | snv | 3.2E-05 | 1 | ||
rs540476365 | 1.000 | 0.120 | 3 | 47121125 | missense variant | T/C | snv | 1 | |||
rs543811905 | 3 | 47029484 | intron variant | AA/-;A;AAA;AAAA;AAAAA | delins | 1 | |||||
rs62246406 | 3 | 47056495 | intron variant | G/A | snv | 0.14 | 1 | ||||
rs754921650 | 1.000 | 0.040 | 3 | 47120446 | missense variant | T/C | snv | 1.2E-05 | 2.1E-05 | 1 | |
rs76208147 | 1.000 | 0.040 | 3 | 47121396 | missense variant | C/T | snv | 6.2E-02 | 2.8E-02 | 1 | |
rs780963440 | 1.000 | 0.120 | 3 | 47123960 | missense variant | G/A;C | snv | 5.0E-05; 1.3E-05 | 1 | ||
rs869025569 | 1.000 | 3 | 47057443 | frameshift variant | T/- | delins | 1 | ||||
rs869025570 | 1.000 | 3 | 47084336 | missense variant | A/C | snv | 1 | ||||
rs869025571 | 1.000 | 3 | 47123816 | stop gained | G/A | snv | 1 | ||||
rs869025572 | 1.000 | 3 | 47122608 | frameshift variant | A/- | del | 1 |