Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1565679039 | 0.701 | 0.400 | 12 | 47983399 | stop gained | T/A | snv | 45 | |||
rs121912893 | 0.708 | 0.400 | 12 | 47983721 | stop gained | G/A;T | snv | 15 | |||
rs121912874 | 0.716 | 0.400 | 12 | 47978329 | missense variant | G/A | snv | 14 | |||
rs794727261 | 0.716 | 0.400 | 12 | 47999953 | stop gained | G/T | snv | 14 | |||
rs121912876 | 0.925 | 0.280 | 12 | 47994041 | missense variant | G/A | snv | 2 | |||
rs121912882 | 0.851 | 0.280 | 12 | 47979534 | missense variant | G/A | snv | 2 | |||
rs1025202963 | 1.000 | 0.240 | 12 | 47987655 | missense variant | C/T | snv | 1 | |||
rs121912869 | 1.000 | 0.240 | 12 | 47995904 | stop gained | G/A | snv | 1 | |||
rs121912873 | 1.000 | 0.240 | 12 | 47977627 | frameshift variant | A/- | del | 1 | |||
rs121912884 | 1.000 | 0.240 | 12 | 47985575 | missense variant | G/A | snv | 1 | |||
rs1246771678 | 1.000 | 0.240 | 12 | 48000055 | stop gained | G/A;T | snv | 1 | |||
rs1555164735 | 1.000 | 0.240 | 12 | 47975472 | frameshift variant | G/- | del | 1 | |||
rs1555165204 | 1.000 | 0.240 | 12 | 47977428 | splice acceptor variant | C/T | snv | 1 | |||
rs1555166658 | 1.000 | 0.240 | 12 | 47983384 | splice donor variant | C/T | snv | 1 | |||
rs1555168309 | 1.000 | 0.240 | 12 | 47992930 | splice acceptor variant | C/- | delins | 1 | |||
rs1555168965 | 1.000 | 0.240 | 12 | 47996544 | splice region variant | T/- | delins | 1 | |||
rs748459670 | 1.000 | 0.240 | 12 | 47978015 | stop gained | G/A;C | snv | 4.0E-06; 3.6E-05 | 1 | ||
rs886043356 | 1.000 | 0.240 | 12 | 47977118 | missense variant | C/T | snv | 1 | |||
rs1555166218 | 1.000 | 0.240 | 12 | 47981804 | frameshift variant | G/-;GG | delins | 1 | |||
rs1555166295 | 1.000 | 0.240 | 12 | 47982105 | splice donor variant | A/- | del | 1 | |||
rs1555166555 | 1.000 | 0.240 | 12 | 47982940 | stop gained | G/A | snv | 1 | |||
rs121912931 | 0.882 | 0.280 | 6 | 70281033 | stop gained | G/A | snv | 1 | |||
rs121912866 | 1.000 | 0.240 | 12 | 47978698 | stop gained | G/A | snv | 1 |