Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs267607261 | 0.807 | 0.280 | 2 | 27312753 | stop gained | C/T | snv | 8.0E-06 | 28 | ||
rs368900406 | 0.827 | 0.160 | 2 | 27312255 | non coding transcript exon variant | A/C | snv | 8.0E-06 | 2.1E-05 | 27 | |
rs781565158 | 0.851 | 0.120 | 12 | 21452130 | missense variant | A/G | snv | 4.7E-05 | 2.1E-05 | 22 | |
rs1057518083 | 0.851 | 0.120 | 14 | 101986552 | missense variant | C/T | snv | 21 | |||
rs267606959 | 0.732 | 0.200 | 15 | 89318986 | missense variant | G/A | snv | 2.0E-05 | 19 | ||
rs782596945 | 0.851 | 0.120 | X | 153580229 | missense variant | G/A;T | snv | 5.5E-06 | 8 | ||
rs879253887 | 0.925 | 0.120 | 11 | 68934542 | missense variant | C/T | snv | 4.1E-06 | 6 | ||
rs1553475005 | 1.000 | 0.120 | 2 | 174824485 | missense variant | A/G | snv | 4 | |||
rs758058910 | 1.000 | 0.120 | 15 | 42360096 | missense variant | C/A;T | snv | 4.0E-06 | 1.4E-05 | 3 | |
rs768090444 | 1.000 | 0.120 | 15 | 42410645 | stop gained | C/G;T | snv | 4.0E-06 | 2.1E-05 | 3 | |
rs1553603732 | 1.000 | 0.160 | 2 | 219423784 | frameshift variant | CCCATCCAGACCTACTC/- | delins | 10 | |||
rs1064795760 | 0.882 | 0.080 | 9 | 92719007 | inframe deletion | ATT/- | del | 14 |