Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs770374710 | 0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins | 87 | |||
rs1163944538 | 0.641 | 0.560 | 17 | 75494905 | frameshift variant | -/A | delins | 4.0E-06 | 73 | ||
rs1352010373 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 73 | |||
rs1560755661 | 0.701 | 0.480 | 4 | 106171094 | splice donor variant | CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- | delins | 44 | |||
rs1555462347 | 0.716 | 0.520 | 16 | 8901028 | frameshift variant | CT/- | delins | 34 | |||
rs1064795559 | 0.752 | 0.320 | 22 | 30946373 | missense variant | G/A | snv | 29 | |||
rs1554208945 | 0.752 | 0.240 | 6 | 87260207 | missense variant | A/C | snv | 26 | |||
rs794727931 | 0.790 | 0.240 | 11 | 78112692 | missense variant | A/C | snv | 19 | |||
rs1425998598 | 0.763 | 0.240 | 17 | 67918802 | missense variant | G/A;C | snv | 1.2E-05 | 19 | ||
rs1057524157 | 0.776 | 0.200 | 11 | 686962 | missense variant | A/C;T | snv | 19 | |||
rs1561273261 | 0.790 | 0.160 | 5 | 62361307 | missense variant | G/A | snv | 17 | |||
rs797044849 | 0.807 | 0.160 | 12 | 13567164 | missense variant | C/A;G;T | snv | 4.0E-06 | 17 | ||
rs771237928 | 0.752 | 0.280 | 1 | 119915813 | frameshift variant | G/-;GG | delins | 14 |