Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs140511594 | 0.742 | 0.360 | 2 | 165941111 | missense variant | G/A | snv | 1.3E-04 | 1.1E-04 | 13 | |
rs1131692245 | 0.925 | 0.160 | 19 | 35844109 | missense variant | C/T | snv | 7 | |||
rs386833945 | 0.882 | 0.080 | 19 | 35850987 | missense variant | G/A | snv | 4 | |||
rs28939378 | 0.925 | 0.160 | 16 | 5078789 | missense variant | C/T | snv | 3.0E-04 | 3.5E-04 | 3 | |
rs114896482 | 0.882 | 0.080 | 19 | 35842487 | missense variant | G/A | snv | 2.3E-03 | 1.5E-03 | 3 | |
rs267606919 | 1.000 | 0.080 | 19 | 35831056 | stop gained | G/A | snv | 9.9E-05 | 2 | ||
rs386833895 | 0.925 | 0.080 | 19 | 35845430 | missense variant | C/A | snv | 3.6E-05 | 7.0E-05 | 2 | |
rs763972372 | 0.925 | 0.080 | 19 | 35849060 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 | 2 | |
rs1054950770 | 1.000 | 0.080 | 19 | 35851260 | splice donor variant | A/G | snv | 7.0E-06 | 1 | ||
rs1057516942 | 1.000 | 0.080 | 19 | 35851557 | frameshift variant | A/- | del | 1 | |||
rs1057517275 | 1.000 | 0.080 | 19 | 35850377 | frameshift variant | C/- | delins | 1 | |||
rs1555764281 | 1.000 | 0.080 | 19 | 35851793 | frameshift variant | C/-;CCC | delins | 1 | |||
rs386833882 | 1.000 | 0.080 | 19 | 35851592 | frameshift variant | C/- | delins | 8.1E-06 | 2.8E-05 | 1 | |
rs386833932 | 1.000 | 0.080 | 19 | 35851346 | missense variant | C/T | snv | 7.0E-06 | 1 | ||
rs386833933 | 1.000 | 0.080 | 19 | 35851340 | missense variant | C/T | snv | 1.6E-05 | 2.1E-05 | 1 | |
rs386833943 | 1.000 | 0.080 | 19 | 35851019 | stop gained | G/C | snv | 1 | |||
rs386833947 | 1.000 | 0.080 | 19 | 35850970 | inframe deletion | GTG/- | delins | 1.4E-05 | 1 | ||
rs386833949 | 1.000 | 0.080 | 19 | 35850969 | missense variant | A/T | snv | 8.0E-06 | 1 | ||
rs386833951 | 1.000 | 0.080 | 19 | 35850440 | stop gained | G/A | snv | 1.2E-05 | 1 | ||
rs386833953 | 1.000 | 0.080 | 19 | 35850398 | stop gained | G/A | snv | 4.0E-06 | 2.1E-05 | 1 | |
rs386833955 | 1.000 | 0.080 | 19 | 35849655 | splice acceptor variant | T/C;G | snv | 8.0E-06 | 1 | ||
rs778217926 | 1.000 | 0.080 | 19 | 35849643 | frameshift variant | G/- | delins | 4.2E-05 | 1 | ||
rs1009762900 | 1.000 | 0.080 | 19 | 35831763 | splice acceptor variant | C/A;T | snv | 1 | |||
rs1057516637 | 1.000 | 0.080 | 19 | 35835755 | frameshift variant | -/G | delins | 1 | |||
rs1057516776 | 1.000 | 0.080 | 19 | 35848147 | stop gained | C/T | snv | 1 |