Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1567690011 | 0.882 | 0.080 | 16 | 68337496 | frameshift variant | AG/- | delins | 9 | |||
rs1567721991 | 0.882 | 0.080 | 16 | 68347257 | frameshift variant | -/GCTCTCCG | delins | 9 | |||
rs387906836 | 0.851 | 0.080 | 6 | 35503763 | missense variant | G/A | snv | 5 | |||
rs1057519324 | 0.925 | 0.080 | 9 | 35801153 | stop gained | C/T | snv | 7.0E-06 | 4 | ||
rs140047318 | 0.882 | 0.080 | 4 | 95152757 | missense variant | G/A;C;T | snv | 1.6E-05; 4.0E-06 | 3 | ||
rs199566527 | 0.882 | 0.080 | 17 | 56594498 | missense variant | G/A | snv | 1.7E-03 | 1.7E-03 | 3 | |
rs77096466 | 1.000 | 0.080 | 20 | 58905474 | missense variant | C/T | snv | 1 | |||
rs1555154946 | 0.827 | 0.120 | 12 | 45850644 | stop gained | C/T | snv | 16 | |||
rs137853027 | 0.827 | 0.120 | 11 | 103220720 | missense variant | A/G | snv | 2.4E-04 | 2.6E-04 | 15 | |
rs371011047 | 0.882 | 0.120 | 11 | 103120982 | stop gained | G/T | snv | 2.8E-05 | 9 | ||
rs764926983 | 0.882 | 0.120 | 11 | 103287559 | synonymous variant | G/A | snv | 1.2E-05 | 9 | ||
rs1556165162 | 0.882 | 0.120 | X | 72572657 | frameshift variant | GG/- | delins | 7 | |||
rs1565311145 | 0.882 | 0.120 | 11 | 103116677 | stop gained | T/A | snv | 7 | |||
rs767846762 | 0.882 | 0.120 | 11 | 103176241 | frameshift variant | AA/- | delins | 1.0E-05 | 7 | ||
rs776587763 | 0.790 | 0.120 | 10 | 121520085 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 7 | ||
rs1565317399 | 0.882 | 0.120 | 11 | 103122879 | stop gained | C/T | snv | 6 | |||
rs587784000 | 0.882 | 0.120 | 5 | 37044480 | missense variant | G/C;T | snv | 5 | |||
rs267607016 | 0.882 | 0.120 | 9 | 91726603 | stop gained | G/A | snv | 4.0E-06 | 1.4E-05 | 3 | |
rs863225094 | 0.827 | 0.160 | 19 | 52213076 | missense variant | G/A | snv | 10 | |||
rs886039795 | 0.851 | 0.160 | 17 | 7403143 | frameshift variant | CACTCAGAGCCTGGTAGTAAAA/- | del | 10 | |||
rs886039813 | 0.827 | 0.160 | X | 13756600 | frameshift variant | C/- | delins | 8 | |||
rs1567499068 | 0.882 | 0.160 | 15 | 76574190 | frameshift variant | G/- | delins | 6 | |||
rs1057520063 | 0.763 | 0.200 | 7 | 41964641 | frameshift variant | -/A | delins | 13 | |||
rs587776917 | 0.776 | 0.200 | 2 | 232485937 | stop gained | -/T | delins | 13 | |||
rs771148519 | 0.807 | 0.200 | 4 | 39225027 | stop gained | C/G | snv | 1.7E-05 | 1.4E-05 | 9 |