Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1019221239 | 0.925 | 0.120 | 5 | 112835093 | stop gained | T/A;C;G | snv | 4.0E-06 | 3 | ||
rs104893877 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 59 | |||
rs1057517457 | 0.851 | 0.120 | 1 | 45332804 | frameshift variant | GCCAGCCCAG/- | delins | 7.0E-06 | 6 | ||
rs1058818 | 0.925 | 0.200 | Y | 18991654 | intron variant | C/T | snv | 2 | |||
rs1058881 | 0.925 | 0.200 | Y | 18991085 | intron variant | C/T | snv | 2 | |||
rs1060503288 | 1.000 | 0.120 | 5 | 112839999 | stop gained | C/G;T | snv | 7.0E-06 | 1 | ||
rs1060503323 | 0.925 | 0.120 | 5 | 112780782 | splice region variant | G/A | snv | 3 | |||
rs1060503333 | 0.925 | 0.120 | 5 | 112821953 | stop gained | C/A;G | snv | 3 | |||
rs1060503366 | 0.925 | 0.120 | 5 | 112819276 | frameshift variant | -/T | delins | 2 | |||
rs1064793716 | 0.925 | 0.120 | 5 | 112835163 | splice region variant | C/T | snv | 2 | |||
rs1064794163 | 1.000 | 0.120 | 5 | 112827106 | splice acceptor variant | A/C;G;T | snv | 2 | |||
rs1064795228 | 1.000 | 0.120 | 5 | 112839048 | stop gained | C/G;T | snv | 1 | |||
rs1114167567 | 1.000 | 0.120 | 5 | 112815548 | frameshift variant | ACAC/-;AC | delins | 2 | |||
rs1114167569 | 0.925 | 0.120 | 5 | 112835166 | splice donor variant | G/A | snv | 3 | |||
rs1114167594 | 0.925 | 0.120 | 5 | 112828885 | frameshift variant | T/- | delins | 3 | |||
rs11283943 | 0.882 | 0.160 | 5 | 113071088 | splice donor variant | -/CGCACTGTCTTCCT;CGCGCTGTCTTCCT;CGTGCTGTCTTCCT | delins | 4 | |||
rs1131691143 | 0.925 | 0.120 | 5 | 112838394 | frameshift variant | TTAC/- | delins | 3 | |||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs11541796 | 0.807 | 0.280 | 18 | 31593011 | missense variant | A/G | snv | 9 | |||
rs1179254201 | 0.925 | 0.200 | 5 | 112767213 | missense variant | T/C | snv | 4.0E-06 | 2 | ||
rs1182822563 | 0.925 | 0.200 | 5 | 112828939 | synonymous variant | A/G | snv | 4.0E-06 | 2 | ||
rs11954856 | 0.732 | 0.200 | 5 | 112751630 | intron variant | T/G | snv | 0.54 | 12 | ||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs121913224 | 0.742 | 0.200 | 5 | 112839515 | frameshift variant | AAAGA/- | delins | 14 | |||
rs121913331 | 0.851 | 0.120 | 5 | 112838934 | stop gained | C/A;T | snv | 8.0E-06 | 11 |