Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs587777641 | 0.925 | 0.040 | 8 | 143215294 | missense variant | A/C | snv | 3 | |||
rs28362459 | 0.925 | 0.040 | 19 | 5844781 | missense variant | A/C;G;T | snv | 0.18; 1.2E-05 | 3 | ||
rs587777642 | 0.925 | 0.040 | 8 | 143215376 | frameshift variant | ACCCTGGCAAAGCTCCC/- | delins | 3 | |||
rs1567629968 | 0.882 | 0.160 | 16 | 67648973 | missense variant | C/A | snv | 3 | |||
rs187238 | 0.602 | 0.680 | 11 | 112164265 | intron variant | C/A;G | snv | 48 | |||
rs199840952 | 0.827 | 0.240 | 2 | 97732893 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 7 | |
rs149491038 | 0.882 | 0.040 | 11 | 117995684 | missense variant | C/T | snv | 8.0E-06 | 2.8E-05 | 3 | |
rs3745635 | 0.882 | 0.040 | 19 | 5844332 | missense variant | C/T | snv | 8.5E-02 | 0.11 | 3 | |
rs1454037218 | 0.925 | 0.120 | 9 | 136371975 | missense variant | C/T | snv | 2 | |||
rs748770316 | 1.000 | 0.040 | 4 | 2744488 | missense variant | C/T | snv | 4.0E-06 | 1 | ||
rs555607708 | 0.667 | 0.360 | 22 | 28695869 | frameshift variant | G/- | del | 2.0E-03 | 1.8E-03 | 33 | |
rs5743708 | 0.525 | 0.800 | 4 | 153705165 | missense variant | G/A | snv | 1.7E-02 | 1.8E-02 | 98 | |
rs121918338 | 0.807 | 0.160 | 9 | 136370362 | stop gained | G/A | snv | 1.2E-05 | 7.0E-06 | 7 | |
rs17388568 | 0.827 | 0.280 | 4 | 122408207 | intron variant | G/A | snv | 0.20 | 6 | ||
rs869025224 | 0.827 | 0.240 | 2 | 97734709 | missense variant | G/C | snv | 7.0E-06 | 7 |