Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs137854539 | 0.716 | 0.520 | 20 | 58903703 | missense variant | C/T | snv | 27 | |||
rs1057518083 | 0.851 | 0.120 | 14 | 101986552 | missense variant | C/T | snv | 21 | |||
rs1085307845 | 0.752 | 0.320 | 6 | 79025582 | missense variant | G/T | snv | 21 | |||
rs1554210073 | 0.752 | 0.320 | 6 | 79042844 | frameshift variant | GT/A | delins | 21 | |||
rs1562114190 | 0.790 | 0.160 | 6 | 78946061 | frameshift variant | A/- | delins | 21 | |||
rs1131691771 | 0.807 | 0.160 | 6 | 78958469 | splice donor variant | ACTT/- | delins | 18 | |||
rs121913293 | 0.732 | 0.360 | 10 | 87952142 | missense variant | C/A;T | snv | 18 | |||
rs1555565492 | 0.776 | 0.160 | 17 | 17795417 | frameshift variant | -/G | delins | 18 | |||
rs1555640521 | 0.790 | 0.320 | 18 | 6942110 | frameshift variant | A/- | delins | 15 | |||
rs1555247672 | 0.827 | 0.200 | 12 | 116007542 | stop gained | G/A | snv | 14 | |||
rs1562150844 | 0.790 | 0.280 | 6 | 78982908 | frameshift variant | CTTT/- | delins | 14 | |||
rs587776667 | 0.742 | 0.280 | 10 | 87931090 | splice donor variant | G/A;C;T | snv | 14 | |||
rs1562134961 | 0.776 | 0.320 | 6 | 78969879 | frameshift variant | A/- | delins | 13 | |||
rs1131691299 | 0.882 | 0.160 | X | 41341587 | frameshift variant | C/- | del | 9 | |||
rs386834070 | 0.851 | 0.360 | 8 | 99134644 | stop gained | C/T | snv | 9 | |||
rs1085308045 | 0.807 | 0.160 | 10 | 87933128 | missense variant | C/G;T | snv | 8 | |||
rs1085308056 | 0.851 | 0.160 | 10 | 87957850 | splice region variant | C/G | snv | 8 | |||
rs121909323 | 0.790 | 0.160 | 19 | 13277122 | stop gained | G/A | snv | 8 | |||
rs1554893835 | 0.827 | 0.240 | 10 | 87894110 | splice donor variant | G/C;T | snv | 8 | |||
rs1085308050 | 0.827 | 0.160 | 10 | 87933178 | frameshift variant | -/A | delins | 7 | |||
rs121908216 | 0.882 | 0.200 | 19 | 13235702 | missense variant | C/T | snv | 7 | |||
rs1555453538 | 0.807 | 0.280 | 15 | 89326678 | frameshift variant | A/- | delins | 7 | |||
rs1564691414 | 0.925 | 0.160 | 10 | 89007698 | splice acceptor variant | A/G | snv | 7 | |||
rs80359636 | 0.851 | 0.240 | 13 | 32354921 | frameshift variant | CT/- | delins | 2.8E-05 | 7 | ||
rs1114167295 | 0.827 | 0.160 | X | 54812169 | frameshift variant | C/- | del | 6 |