Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1555535032 | 0.882 | 0.120 | 17 | 31338734 | frameshift variant | TTAC/- | delins | 9 | |||
rs1569355102 | 0.695 | 0.360 | 21 | 37472869 | frameshift variant | TAAC/- | delins | 51 | |||
rs1057518842 | 1.000 | 0.080 | 17 | 31227215 | splice region variant | T/G | snv | 5 | |||
rs1560419312 | 1.000 | 0.120 | 4 | 54729344 | missense variant | T/G | snv | 4 | |||
rs727503109 | 0.752 | 0.320 | 12 | 25245277 | missense variant | T/C | snv | 17 | |||
rs137852814 | 0.752 | 0.240 | 2 | 39022774 | missense variant | T/A;C | snv | 4.0E-06 | 16 | ||
rs1135402867 | 1.000 | 0.120 | 17 | 31325978 | frameshift variant | T/-;TT | delins | 2 | |||
rs1554888939 | 0.683 | 0.640 | 9 | 137798823 | missense variant | G/T | snv | 58 | |||
rs1085307845 | 0.752 | 0.320 | 6 | 79025582 | missense variant | G/T | snv | 21 | |||
rs397507542 | 0.790 | 0.320 | 12 | 112489069 | missense variant | G/T | snv | 9 | |||
rs1060500345 | 1.000 | 0.120 | 17 | 31337583 | splice donor variant | G/A;T | snv | 2 | |||
rs796052505 | 0.724 | 0.440 | 5 | 162095551 | missense variant | G/A;C | snv | 57 | |||
rs1555429629 | 0.763 | 0.200 | 15 | 40729632 | missense variant | G/A | snv | 23 | |||
rs1554504663 | 0.851 | 0.080 | 8 | 23007627 | missense variant | G/A | snv | 11 | |||
rs863224493 | 0.925 | 0.120 | 17 | 31352281 | stop gained | G/A | snv | 7 | |||
rs1057518974 | 1.000 | 0.080 | 17 | 31334837 | splice acceptor variant | G/A | snv | 3 | |||
rs1057519370 | 0.882 | 0.120 | 17 | 31159091 | splice donor variant | G/- | delins | 7 | |||
rs867410737 | 0.708 | 0.440 | 19 | 1242559 | missense variant | C/T | snv | 6.7E-06 | 42 | ||
rs1556425596 | 0.752 | 0.240 | 21 | 45989967 | intron variant | C/T | snv | 37 | |||
rs121918457 | 0.701 | 0.280 | 12 | 112488466 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 18 | |
rs606231435 | 0.827 | 0.240 | 19 | 41970539 | missense variant | C/T | snv | 17 | |||
rs397514641 | 0.827 | 0.320 | 17 | 31169985 | stop gained | C/T | snv | 4.0E-06 | 1.4E-05 | 11 | |
rs768638173 | 0.882 | 0.200 | 17 | 31226474 | stop gained | C/T | snv | 4.0E-06 | 1.4E-05 | 5 | |
rs886039899 | 0.925 | 0.160 | 5 | 140114891 | missense variant | C/T | snv | 3 | |||
rs397507483 | 0.790 | 0.400 | 7 | 140753348 | missense variant | C/A;T | snv | 13 |