Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs587777893 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 67 | |||
rs1276519904 | 0.645 | 0.520 | 1 | 226071445 | missense variant | A/G | snv | 63 | |||
rs1554700718 | 0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv | 59 | |||
rs779027563 | 0.677 | 0.360 | 17 | 42687838 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 58 | |
rs1554333853 | 0.689 | 0.320 | 7 | 40046006 | missense variant | A/G | snv | 54 | |||
rs886041065 | 0.677 | 0.600 | 2 | 25743913 | frameshift variant | G/- | delins | 43 | |||
rs121913355 | 0.641 | 0.520 | 7 | 140781602 | missense variant | C/A;G;T | snv | 4.0E-06 | 42 | ||
rs587784347 | 0.742 | 0.280 | 22 | 38113561 | missense variant | G/A | snv | 8.0E-06 | 38 | ||
rs1555038111 | 0.701 | 0.480 | 11 | 118478153 | stop gained | T/G | snv | 37 | |||
rs1364709483 | 0.701 | 0.360 | 17 | 61400235 | missense variant | G/A | snv | 6.5E-05 | 36 | ||
rs1557781252 | 0.742 | 0.320 | 1 | 153816414 | stop gained | G/A | snv | 33 | |||
rs1034395178 | 0.716 | 0.480 | 22 | 20996071 | stop gained | C/A;T | snv | 4.0E-06; 8.0E-06 | 33 | ||
rs80338945 | 0.695 | 0.440 | 13 | 20189313 | missense variant | A/G | snv | 6.4E-04 | 6.4E-04 | 32 | |
rs121918455 | 0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv | 31 | |||
rs28934907 | 0.732 | 0.320 | X | 154032268 | missense variant | G/A;C | snv | 30 | |||
rs1559470315 | 0.732 | 0.320 | 3 | 41227287 | protein altering variant | CCACAAGCAG/T | delins | 26 | |||
rs398124401 | 0.695 | 0.480 | 4 | 55346393 | stop gained | G/A | snv | 1.2E-04 | 2.8E-05 | 26 | |
rs121918494 | 0.790 | 0.160 | 10 | 121517363 | missense variant | G/C | snv | 25 | |||
rs1555954284 | 0.752 | 0.360 | X | 41346607 | missense variant | C/T | snv | 24 | |||
rs1569509136 | 0.708 | 0.400 | X | 53647576 | splice acceptor variant | T/C | snv | 24 | |||
rs559979281 | 0.742 | 0.440 | 2 | 121530892 | non coding transcript exon variant | C/G;T | snv | 7.7E-06; 2.3E-05; 3.5E-04 | 23 | ||
rs1564919048 | 0.732 | 0.280 | 10 | 121520106 | missense variant | C/A | snv | 23 | |||
rs863225422 | 0.742 | 0.440 | 2 | 121530927 | non coding transcript exon variant | G/A | snv | 4.6E-05; 7.7E-06 | 4.9E-05 | 23 | |
rs121908557 | 0.752 | 0.280 | 17 | 63957514 | missense variant | C/T | snv | 8.2E-06 | 1.4E-05 | 23 | |
rs886043994 | 0.776 | 0.400 | 20 | 32433355 | frameshift variant | GT/- | delins | 21 |