Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1085307993 | 0.716 | 0.440 | 5 | 161331056 | missense variant | C/T | snv | 53 | |||
rs780533096 | 0.701 | 0.600 | 13 | 23886338 | missense variant | C/G;T | snv | 4.8E-06; 9.6E-06 | 44 | ||
rs61755320 | 0.716 | 0.520 | 16 | 89546737 | missense variant | C/T | snv | 2.9E-03 | 3.5E-03 | 41 | |
rs370717845 | 0.763 | 0.320 | 8 | 43161462 | missense variant | G/A | snv | 33 | |||
rs80338945 | 0.695 | 0.440 | 13 | 20189313 | missense variant | A/G | snv | 6.4E-04 | 6.4E-04 | 32 | |
rs375817528 | 0.776 | 0.160 | 11 | 65206824 | splice region variant | G/A | snv | 1.2E-04 | 1.2E-04 | 25 | |
rs864321670 | 0.763 | 0.320 | 10 | 95633012 | missense variant | C/T | snv | 24 | |||
rs387906686 | 0.742 | 0.320 | 2 | 165310413 | missense variant | C/A;T | snv | 23 | |||
rs1558373252 | 0.790 | 0.120 | 2 | 5693013 | frameshift variant | T/- | delins | 19 | |||
rs1217391623 | 0.882 | 0.160 | 16 | 89556976 | frameshift variant | G/- | del | 7.0E-06 | 11 | ||
rs386834070 | 0.851 | 0.360 | 8 | 99134644 | stop gained | C/T | snv | 9 | |||
rs1057519436 | 0.882 | 0.200 | 3 | 47846550 | missense variant | G/A | snv | 7 | |||
rs1555475794 | 0.925 | 0.120 | 16 | 682729 | 3 prime UTR variant | T/C | snv | 7 | |||
rs1445287184 | 1.000 | 0.120 | 12 | 80670365 | stop gained | C/T | snv | 3.2E-05 | 2.8E-05 | 7 |