Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1043679457 | 0.752 | 0.400 | 5 | 60927745 | intron variant | C/A;G;T | snv | 33 | |||
rs727502818 | 0.790 | 0.160 | 11 | 17772053 | missense variant | G/A | snv | 26 | |||
rs1448259271 | 0.790 | 0.240 | 14 | 77027279 | stop gained | C/A;T | snv | 23 | |||
rs387906686 | 0.742 | 0.320 | 2 | 165310413 | missense variant | C/A;T | snv | 23 | |||
rs1555630216 | 0.790 | 0.160 | 18 | 10714931 | splice acceptor variant | C/T | snv | 22 | |||
rs1555648288 | 0.790 | 0.160 | 18 | 10795003 | splice acceptor variant | C/T | snv | 22 | |||
rs606231435 | 0.827 | 0.240 | 19 | 41970539 | missense variant | C/T | snv | 18 | |||
rs774277300 | 0.742 | 0.360 | 11 | 94447276 | stop gained | G/A;C;T | snv | 2.8E-05; 4.0E-05; 4.0E-06 | 17 | ||
rs1555817157 | 0.742 | 0.280 | 20 | 25339320 | frameshift variant | TCTTCCTCAGGCG/- | del | 16 | |||
rs1554768245 | 0.807 | 0.160 | 6 | 152472395 | frameshift variant | C/- | delins | 16 | |||
rs142433332 | 0.807 | 0.160 | 1 | 173831632 | splice donor variant | T/A;C;G | snv | 8.0E-06; 3.3E-04; 4.0E-06 | 14 | ||
rs1553201258 | 0.807 | 0.160 | 1 | 173828312 | non coding transcript exon variant | TT/C | delins | 14 | |||
rs1553281318 | 0.882 | 0.120 | 1 | 226986536 | frameshift variant | -/A | delins | 7 | |||
rs1555475794 | 0.925 | 0.120 | 16 | 682729 | 3 prime UTR variant | T/C | snv | 7 | |||
rs730882209 | 0.925 | 0.080 | 9 | 132326375 | frameshift variant | -/C | delins | 6 | |||
rs1057519561 | 0.882 | 0.200 | 6 | 85533701 | frameshift variant | -/AAAAAAAAAAA | delins | 7.0E-06 | 4 | ||
rs774694340 | 0.882 | 0.200 | 6 | 85508043 | frameshift variant | A/- | del | 6.4E-05 | 1.4E-05 | 4 |