Source: CURATED
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1553568831 | 1.000 | 0.040 | 2 | 222201988 | frameshift variant | -/TGTA | delins | 1 | |||
rs369886550 | 1.000 | 0.040 | 2 | 222202087 | stop gained | G/A;C;T | snv | 2.0E-05; 4.0E-06 | 1 | ||
rs147111779 | 1.000 | 0.040 | 2 | 222202134 | stop gained | G/A;C | snv | 2.8E-05 | 2.1E-05 | 1 | |
rs1553572740 | 1.000 | 0.040 | 2 | 222220292 | stop gained | G/A | snv | 1 | |||
rs1553572946 | 1.000 | 0.040 | 2 | 222221259 | frameshift variant | C/- | del | 1 | |||
rs1553572967 | 0.925 | 0.040 | 2 | 222221300 | frameshift variant | -/C | delins | 2 | |||
rs1020175890 | 1.000 | 0.040 | 2 | 222221362 | missense variant | C/T | snv | 1 | |||
rs774528745 | 1.000 | 0.040 | 2 | 222221368 | missense variant | C/T | snv | 1 | |||
rs1380858784 | 1.000 | 0.040 | 2 | 222221369 | missense variant | G/A | snv | 1 | |||
rs1228590199 | 0.925 | 0.040 | 2 | 222221372 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 2 | |
rs1553575157 | 1.000 | 0.040 | 2 | 222232079 | missense variant | T/G | snv | 1 | |||
rs1553575159 | 1.000 | 0.040 | 2 | 222232080 | stop gained | G/A | snv | 1 | |||
rs886041319 | 1.000 | 0.040 | 2 | 222232086 | stop gained | G/A | snv | 1 | |||
rs1553575179 | 1.000 | 0.040 | 2 | 222232131 | frameshift variant | AATGTCAGGGTAA/- | delins | 1 | |||
rs1553575191 | 1.000 | 0.040 | 2 | 222232178 | missense variant | A/G | snv | 1 | |||
rs1559316535 | 1.000 | 0.040 | 2 | 222294194 | frameshift variant | GT/- | delins | 1 | |||
rs1559316542 | 1.000 | 0.040 | 2 | 222294197 | frameshift variant | G/- | del | 1 | |||
rs1553592703 | 1.000 | 0.040 | 2 | 222294222 | frameshift variant | -/AG | ins | 1 | |||
rs1553592713 | 1.000 | 0.040 | 2 | 222294228 | frameshift variant | -/T | delins | 1 | |||
rs1553592757 | 1.000 | 0.040 | 2 | 222294269 | frameshift variant | ATT/TA | delins | 1 | |||
rs1553592766 | 1.000 | 0.040 | 2 | 222294289 | frameshift variant | C/- | del | 1 | |||
rs1379006499 | 1.000 | 0.040 | 2 | 222294310 | intron variant | G/A;T | snv | 7.0E-06 | 1 | ||
rs876661317 | 1.000 | 0.040 | 2 | 222295564 | stop gained | T/A | snv | 1 | |||
rs1559318562 | 1.000 | 0.040 | 2 | 222295610 | frameshift variant | CTTTT/- | delins | 1 | |||
rs1189463428 | 1.000 | 0.040 | 2 | 222297003 | missense variant | C/T | snv | 1 |