Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs12756618 | 1.000 | 0.160 | 1 | 85587205 | downstream gene variant | C/T | snv | 4.5E-02 | 1 | ||
rs1393491 | 1.000 | 0.160 | 10 | 100367390 | downstream gene variant | T/C | snv | 0.15 | 1 | ||
rs3917368 | 1.000 | 0.160 | 2 | 112825205 | upstream gene variant | C/T | snv | 0.29 | 1 | ||
rs1264439 | 1.000 | 0.160 | 6 | 30584725 | intron variant | A/C | snv | 0.74 | 1 | ||
rs11250144 | 0.925 | 0.200 | 8 | 11528767 | intron variant | G/A;C | snv | 2 | |||
rs2201841 | 0.716 | 0.440 | 1 | 67228519 | intron variant | A/G;T | snv | 14 | |||
rs3753793 | 0.851 | 0.240 | 1 | 85580205 | upstream gene variant | A/C | snv | 0.26 | 4 | ||
rs7005834 | 0.827 | 0.160 | 8 | 133201961 | intron variant | C/A;T | snv | 6 | |||
rs1883832 | 0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 | 52 | |
rs231775 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 115 | ||
rs733618 | 0.763 | 0.440 | 2 | 203866221 | upstream gene variant | T/C | snv | 0.10 | 12 | ||
rs16840252 | 0.776 | 0.480 | 2 | 203866796 | upstream gene variant | C/T | snv | 0.16 | 8 | ||
rs2227306 | 0.677 | 0.680 | 4 | 73741338 | intron variant | C/T | snv | 0.31 | 21 | ||
rs1378228 | 1.000 | 0.160 | 1 | 85570890 | intron variant | G/C;T | snv | 1 | |||
rs6682848 | 1.000 | 0.160 | 1 | 85572793 | intron variant | A/C | snv | 0.89 | 1 | ||
rs225014 | 0.695 | 0.400 | 14 | 80203237 | missense variant | T/C | snv | 0.41 | 0.39 | 22 | |
rs2267873 | 0.925 | 0.160 | 14 | 80207471 | intron variant | A/G | snv | 0.20 | 2 | ||
rs758272654 | 0.611 | 0.680 | 20 | 58909201 | synonymous variant | T/C | snv | 4.0E-06 | 7.0E-06 | 50 | |
rs2074505 | 1.000 | 0.160 | 6 | 30553360 | synonymous variant | G/A | snv | 0.67 | 0.66 | 1 | |
rs17879469 | 0.763 | 0.360 | 6 | 32584333 | missense variant | C/G | snv | 1.3E-05 | 9 | ||
rs1799969 | 0.637 | 0.560 | 19 | 10284116 | missense variant | G/A | snv | 0.11 | 9.3E-02 | 38 | |
rs5498 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 99 | |
rs1003199 | 1.000 | 0.160 | 5 | 159328558 | intron variant | C/T | snv | 0.43 | 1 | ||
rs1800587 | 0.620 | 0.720 | 2 | 112785383 | upstream gene variant | G/A;C | snv | 0.32 | 43 | ||
rs16944 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 92 |