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 | |||
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 | |||
rs1010184002 | 0.689 | 0.400 | 6 | 42978878 | stop gained | C/T | snv | 7.0E-06 | 60 | ||
rs1555743003 | 0.701 | 0.520 | 18 | 33740444 | splice donor variant | G/A | snv | 58 | |||
rs796052505 | 0.724 | 0.440 | 5 | 162095551 | missense variant | G/A;C | snv | 57 | |||
rs1085307993 | 0.716 | 0.440 | 5 | 161331056 | missense variant | C/T | snv | 53 | |||
rs1009298200 | 0.742 | 0.400 | 16 | 5079077 | missense variant | C/G;T | snv | 7.0E-06 | 34 | ||
rs1555452127 | 0.742 | 0.400 | 16 | 5079078 | missense variant | T/C | snv | 34 | |||
rs776969714 | 0.752 | 0.240 | 4 | 25145129 | splice acceptor variant | -/C | delins | 4.2E-05 | 34 | ||
rs875989800 | 0.732 | 0.480 | 22 | 23833670 | inframe deletion | AGA/- | delins | 33 | |||
rs387907141 | 0.752 | 0.360 | 6 | 157181137 | stop gained | C/T | snv | 24 | |||
rs1057518879 | 0.776 | 0.280 | 1 | 11965571 | stop gained | G/A | snv | 19 | |||
rs387906846 | 0.807 | 0.280 | 1 | 26773716 | stop gained | C/G;T | snv | 19 | |||
rs1553212868 | 0.807 | 0.280 | 1 | 151406264 | frameshift variant | G/- | delins | 17 | |||
rs1064797102 | 0.827 | 0.120 | 8 | 91071136 | splice acceptor variant | A/G | snv | 15 | |||
rs1421405659 | 0.851 | 0.360 | 12 | 101642529 | missense variant | T/C;G | snv | 13 | |||
rs1555652383 | 0.807 | 0.160 | 17 | 67912720 | frameshift variant | TG/- | delins | 13 | |||
rs1553511224 | 0.882 | 0.080 | 2 | 161423825 | frameshift variant | -/C | delins | 10 | |||
rs869312704 | 0.882 | 0.160 | 2 | 161423752 | frameshift variant | -/GGCTGCA | delins | 10 | |||
rs869025222 | 0.827 | 0.240 | 3 | 25580574 | missense variant | T/C | snv | 9 | |||
rs61749715 | 0.851 | 0.120 | X | 154031154 | missense variant | G/A;C | snv | 8 | |||
rs1057518887 | 0.925 | 0.160 | 4 | 25156851 | splice region variant | C/T | snv | 7 | |||
rs121434578 | 1.000 | 0.080 | 16 | 8768248 | missense variant | G/A | snv | 5 | |||
rs724159990 | 1.000 | 0.080 | 16 | 8768220 | missense variant | C/T | snv | 5 |