Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs10054105 | 0.925 | 0.080 | 5 | 111573636 | intron variant | T/G | snv | 0.17 | 3 | ||
rs2556378 | 1.000 | 0.040 | 2 | 60535367 | 3 prime UTR variant | T/G | snv | 0.81 | 3 | ||
rs3803185 | 0.708 | 0.320 | 13 | 49630889 | missense variant | T/C;G | snv | 0.39 | 19 | ||
rs2555019 | 1.000 | 0.040 | 12 | 114230813 | intergenic variant | T/C;G | snv | 3 | |||
rs4938723 | 0.574 | 0.680 | 11 | 111511840 | intron variant | T/C | snv | 0.32 | 60 | ||
rs700518 | 0.732 | 0.320 | 15 | 51236915 | synonymous variant | T/C | snv | 0.43 | 0.40 | 13 | |
rs103294 | 0.827 | 0.200 | 19 | 54293995 | downstream gene variant | T/C | snv | 0.82 | 7 | ||
rs339331 | 0.882 | 0.080 | 6 | 116888889 | intron variant | T/C | snv | 0.28 | 4 | ||
rs8853 | 0.882 | 0.120 | 12 | 114671102 | 3 prime UTR variant | T/C | snv | 0.52 | 4 | ||
rs11084596 | 1.000 | 0.040 | 19 | 31614073 | regulatory region variant | T/C | snv | 0.35 | 3 | ||
rs11199879 | 1.000 | 0.040 | 10 | 121285698 | regulatory region variant | T/C | snv | 0.18 | 3 | ||
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs9958656 | 1.000 | 0.040 | 18 | 22324181 | intergenic variant | T/A;C | snv | 2 | |||
rs1047100 | 1.000 | 0.040 | 10 | 121538644 | synonymous variant | T/A;C | snv | 1.2E-05; 0.78 | 1 | ||
rs3797177 | 1.000 | 0.040 | 5 | 6666971 | intron variant | T/A;C | snv | 1 | |||
rs333 | 0.667 | 0.520 | 3 | 46373453 | frameshift variant | GTCAGTATCAATTCTGGAAGAATTTCCAGACA/- | delins | 7.3E-02 | 23 | ||
rs677394 | 1.000 | 0.040 | 5 | 135271869 | intron variant | G/C;T | snv | 2 | |||
rs10786938 | 1.000 | 0.040 | 10 | 106280012 | intergenic variant | G/C;T | snv | 1 | |||
rs200383755 | 0.925 | 0.080 | 20 | 62475466 | missense variant | G/C | snv | 3.4E-03 | 3.0E-03 | 3 | |
rs1638703 | 1.000 | 0.040 | 13 | 50514220 | intron variant | G/C | snv | 0.27 | 2 | ||
rs2710383 | 1.000 | 0.040 | 22 | 32554983 | intron variant | G/C | snv | 0.11 | 1 | ||
rs534957 | 1.000 | 0.040 | 6 | 53541553 | intron variant | G/C | snv | 0.39 | 1 | ||
rs148678804 | 1.000 | 0.040 | 10 | 22138360 | intergenic variant | G/A;T | snv | 2 | |||
rs523349 | 0.689 | 0.440 | 2 | 31580636 | missense variant | G/A;C;T | snv | 0.66; 4.9E-06 | 21 | ||
rs1800470 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 107 |