Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1163944538 | 0.641 | 0.560 | 17 | 75494905 | frameshift variant | -/A | delins | 4.0E-06 | 73 | ||
rs1352010373 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 73 | |||
rs200661329 | 0.708 | 0.440 | 16 | 576255 | splice donor variant | G/A;C | snv | 5.7E-05 | 48 | ||
rs1232880706 | 0.689 | 0.440 | 15 | 48526247 | stop gained | C/A;T | snv | 36 | |||
rs875989800 | 0.732 | 0.480 | 22 | 23833670 | inframe deletion | AGA/- | delins | 33 | |||
rs267607093 | 0.851 | 0.160 | 4 | 55359444 | stop gained | G/A | snv | 4.0E-06 | 14 | ||
rs868064163 | 1.000 | 0.040 | 3 | 179586552 | missense variant | C/T | snv | 7.0E-06 | 13 | ||
rs1554781700 | 0.851 | 0.240 | 9 | 134701287 | missense variant | G/T | snv | 12 | |||
rs886041239 | 1.000 | 0.160 | 10 | 110593202 | missense variant | A/G | snv | 9 | |||
rs886039900 | 0.925 | 0.320 | 1 | 27549887 | frameshift variant | C/- | delins | 8 | |||
rs143044921 | 0.827 | 0.280 | 13 | 38691375 | missense variant | G/A;T | snv | 3.5E-03 | 8 | ||
rs1553630457 | 0.882 | 0.240 | 3 | 30674231 | missense variant | T/C | snv | 8 | |||
rs863224493 | 0.925 | 0.120 | 17 | 31352281 | stop gained | G/A | snv | 7 | |||
rs61729366 | 0.851 | 0.240 | 4 | 78511299 | missense variant | G/A | snv | 5.2E-03 | 5.8E-03 | 6 | |
rs1057518909 | 0.925 | 0.120 | 15 | 48534099 | frameshift variant | CATT/- | delins | 5 | |||
rs138385391 | X | 133026484 | missense variant | C/T | snv | 4.5E-03 | 3.2E-03 | 2 | |||
rs35397110 | X | 133027131 | missense variant | G/A;T | snv | 3.8E-02 | 2 | ||||
rs3809060 | 11 | 32437261 | intron variant | G/T | snv | 0.49 | 2 | ||||
rs2009262 | 2 | 55785079 | intergenic variant | T/C | snv | 0.19 | 1 | ||||
rs6991952 | 8 | 25849896 | intron variant | A/G | snv | 0.49 | 1 | ||||
rs370763 | 5 | 65059233 | intergenic variant | T/A | snv | 0.66 | 1 |