Source: ALL
Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1045933779 | 1.000 | 0.160 | 7 | 107710150 | missense variant | T/C | snv | 7.0E-06 | 1 | ||
rs1057516243 | 1.000 | 0.160 | 7 | 107698092 | missense variant | G/T | snv | 1 | |||
rs1057516354 | 1.000 | 0.160 | 7 | 107690212 | frameshift variant | A/- | del | 1 | |||
rs1057516535 | 1.000 | 0.160 | 7 | 107696030 | splice donor variant | TCAGTTGTGAGT/- | delins | 1 | |||
rs1057516636 | 1.000 | 0.160 | 7 | 107701988 | frameshift variant | C/- | delins | 1 | |||
rs1057516678 | 1.000 | 0.160 | 7 | 107674963 | stop gained | C/T | snv | 4.0E-06 | 1 | ||
rs1057516717 | 1.000 | 0.160 | 7 | 107695931 | splice acceptor variant | A/G | snv | 1 | |||
rs1057516796 | 1.000 | 0.160 | 7 | 107704363 | frameshift variant | T/- | del | 1 | |||
rs1057516881 | 1.000 | 0.160 | 7 | 107674350 | splice donor variant | T/A | snv | 1 | |||
rs1057516988 | 1.000 | 0.160 | 7 | 107674163 | splice acceptor variant | G/A | snv | 4.0E-06 | 1 | ||
rs1057517000 | 1.000 | 0.160 | 7 | 107690238 | splice donor variant | G/A;T | snv | 1 | |||
rs1057517042 | 1.000 | 0.160 | 7 | 107690147 | missense variant | C/A | snv | 1 | |||
rs1057517161 | 1.000 | 0.160 | 7 | 107701972 | missense variant | T/A | snv | 1 | |||
rs1057517246 | 1.000 | 0.160 | 7 | 107683290 | frameshift variant | GGAATTAA/- | delins | 1 | |||
rs1057517298 | 1.000 | 0.160 | 7 | 107694620 | splice acceptor variant | G/T | snv | 1 | |||
rs1060499807 | 1.000 | 0.160 | 7 | 107689200 | splice donor variant | G/- | delins | 1 | |||
rs111033244 | 1.000 | 0.160 | 7 | 107690125 | missense variant | A/G | snv | 1.1E-04 | 1.5E-04 | 1 | |
rs111033245 | 1.000 | 0.160 | 7 | 107683355 | splice donor variant | G/T | snv | 1 | |||
rs111033254 | 1.000 | 0.160 | 7 | 107698085 | missense variant | T/C | snv | 2.0E-05 | 2.1E-05 | 1 | |
rs111033306 | 1.000 | 0.160 | 7 | 107694419 | inframe deletion | TGC/- | delins | 2.8E-05 | 1 | ||
rs111033309 | 1.000 | 0.160 | 7 | 107702038 | missense variant | G/A;C | snv | 6.4E-05; 4.0E-06 | 1 | ||
rs111033311 | 1.000 | 0.160 | 7 | 107694402 | splice acceptor variant | G/C | snv | 4.0E-06 | 1 | ||
rs111033316 | 1.000 | 0.160 | 7 | 107696036 | missense variant | A/G | snv | 5.6E-05 | 6.3E-05 | 1 | |
rs1205712508 | 1.000 | 0.160 | 7 | 107674311 | missense variant | T/C | snv | 1.2E-05 | 1.4E-05 | 1 | |
rs121908360 | 1.000 | 0.160 | 7 | 107702023 | missense variant | T/G | snv | 1 |