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 | |||
rs61753219 | 0.672 | 0.400 | 6 | 42978330 | missense variant | G/A | snv | 3.6E-05 | 2.8E-05 | 64 | |
rs1276519904 | 0.645 | 0.520 | 1 | 226071445 | missense variant | A/G | snv | 63 | |||
rs397507520 | 0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv | 39 | |||
rs80338796 | 0.667 | 0.480 | 3 | 12604200 | missense variant | G/A;C | snv | 4.0E-06 | 37 | ||
rs180177035 | 0.752 | 0.280 | 7 | 140801502 | missense variant | T/C | snv | 35 | |||
rs28933068 | 0.645 | 0.560 | 4 | 1805644 | missense variant | C/A;G;T | snv | 1.6E-05 | 30 | ||
rs201893408 | 0.695 | 0.480 | 8 | 93795970 | missense variant | T/A;C | snv | 8.0E-06; 1.5E-04 | 28 | ||
rs1057518345 | 0.742 | 0.400 | 20 | 50894172 | frameshift variant | ACTA/- | delins | 25 | |||
rs61750240 | 0.752 | 0.240 | X | 154031020 | stop gained | G/A;C | snv | 5.5E-06 | 19 | ||
rs398123009 | 0.790 | 0.200 | 11 | 66211206 | missense variant | C/T | snv | 7.0E-06 | 19 | ||
rs397507531 | 0.752 | 0.320 | 12 | 112473040 | missense variant | T/C;G | snv | 18 | |||
rs121909574 | 0.724 | 0.400 | 6 | 10404509 | missense variant | T/A;C;G | snv | 4.6E-06 | 17 | ||
rs267607048 | 0.752 | 0.560 | 10 | 110964362 | missense variant | A/G | snv | 7.0E-06 | 16 | ||
rs387906702 | 0.807 | 0.200 | X | 53403635 | missense variant | A/G | snv | 16 | |||
rs147001633 | 0.776 | 0.240 | 2 | 25234373 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 2.2E-04 | 15 | ||
rs1064797102 | 0.827 | 0.120 | 8 | 91071136 | splice acceptor variant | A/G | snv | 15 | |||
rs28933386 | 0.752 | 0.400 | 12 | 112477719 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 15 | |
rs587777308 | 0.763 | 0.040 | 5 | 161873196 | missense variant | G/A | snv | 14 | |||
rs397507547 | 0.752 | 0.280 | 12 | 112489086 | missense variant | A/G | snv | 4.0E-06 | 14 | ||
rs886041116 | 0.776 | 0.240 | 20 | 50892526 | stop gained | G/A | snv | 13 | |||
rs28940579 | 0.732 | 0.440 | 16 | 3243310 | missense variant | A/G;T | snv | 2.2E-03; 4.0E-06 | 13 | ||
rs1555740650 | 0.807 | 0.240 | 19 | 49596253 | stop gained | G/T | snv | 13 | |||
rs759317757 | 0.807 | 0.280 | 8 | 91078416 | frameshift variant | TTAAC/- | delins | 12 | |||
rs786204929 | 0.752 | 0.200 | 10 | 87933144 | stop gained | G/A;T | snv | 12 |