Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057519699 | 3 | 179218315 | missense variant | G/A | snv | 2 | |||||
rs1057519827 | 6 | 152011697 | missense variant | G/C | snv | 2 | |||||
rs786202676 | 22 | 28696956 | missense variant | T/A;G | snv | 2 | |||||
rs7984952 | 13 | 30657669 | missense variant | T/C | snv | 0.41 | 0.51 | 2 | |||
rs80357243 | 17 | 43063885 | missense variant | A/C;G | snv | 2 | |||||
rs1057519714 | 6 | 152094402 | missense variant | T/C | snv | 1 | |||||
rs1057519716 | 6 | 152098782 | missense variant | C/A | snv | 1 | |||||
rs1057519717 | 6 | 152098785 | missense variant | T/G | snv | 1 | |||||
rs1057519727 | 15 | 28260829 | missense variant | A/G | snv | 1 | |||||
rs1057519737 | 17 | 39724750 | inframe insertion | -/GCTCCCCAG | delins | 1 | |||||
rs1131692162 | 17 | 43099781 | stop gained | C/A | snv | 1 | |||||
rs1131692241 | 17 | 39723966 | inframe deletion | TGAGGGAAAACACAT/- | delins | 1 | |||||
rs1215280530 | 16 | 67616822 | missense variant | A/G | snv | 1 | |||||
rs121913285 | 3 | 179218286 | missense variant | C/G | snv | 1 | |||||
rs1389945622 | 3 | 36993560 | missense variant | G/A;C | snv | 1 | |||||
rs146312682 | 3 | 45595642 | missense variant | A/C | snv | 8.6E-04 | 7.7E-04 | 1 | |||
rs1553622530 | 2 | 214781220 | stop gained | C/T | snv | 1 | |||||
rs1554897879 | 10 | 87931085 | stop gained | C/A | snv | 1 | |||||
rs1555114766 | 11 | 108317486 | stop gained | G/A | snv | 1 | |||||
rs1555280073 | 13 | 32316454 | start lost | TAAAAATGCCTATTGG/- | delins | 1 | |||||
rs1555284442 | 13 | 32340234 | frameshift variant | G/- | del | 1 | |||||
rs1555444543 | 15 | 28260816 | inframe deletion | GTCCAGTCCTGGCAA/- | del | 1 | |||||
rs1555458822 | 16 | 23614062 | frameshift variant | T/- | delins | 1 | |||||
rs1555461693 | 16 | 23635903 | stop gained | C/A | snv | 1 | |||||
rs1555526250 | 17 | 7675191 | frameshift variant | -/GGTCT | delins | 1 |