Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs8099917 | 0.581 | 0.600 | 19 | 39252525 | upstream gene variant | T/G | snv | 0.16 | 60 | ||
rs2896019 | 0.790 | 0.160 | 22 | 43937814 | intron variant | T/G | snv | 0.20 | 10 | ||
rs1229984 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 83 | ||
rs1260326 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 81 | |
rs2241766 | 0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 | 48 | ||
rs121912666 | 0.645 | 0.360 | 17 | 7674872 | missense variant | T/C;G | snv | 8.0E-06 | 34 | ||
rs780094 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 62 | ||
rs13361189 | 0.752 | 0.240 | 5 | 150843825 | upstream gene variant | T/C | snv | 0.21 | 13 | ||
rs1010023 | 0.851 | 0.080 | 22 | 43940218 | intron variant | T/C | snv | 0.20 | 4 | ||
rs3213445 | 0.851 | 0.120 | 22 | 50577409 | missense variant | T/C | snv | 0.12 | 8.9E-02 | 4 | |
rs17007417 | 0.882 | 0.080 | 2 | 71808541 | regulatory region variant | T/C | snv | 0.85 | 3 | ||
rs2862954 | 0.925 | 0.040 | 10 | 100152307 | missense variant | T/C | snv | 0.34 | 0.32 | 2 | |
rs2290602 | 0.882 | 0.040 | 4 | 23824109 | intron variant | T/A;G | snv | 3 | |||
rs641738 | 0.689 | 0.320 | 19 | 54173068 | missense variant | T/A;C;G | snv | 22 | |||
rs10833 | 0.776 | 0.160 | 4 | 141733394 | 3 prime UTR variant | T/A;C | snv | 10 | |||
rs1800234 | 0.807 | 0.240 | 22 | 46219983 | missense variant | T/A;C | snv | 4.0E-06; 1.1E-02 | 6 | ||
rs2070666 | 0.882 | 0.120 | 11 | 116830958 | intron variant | T/A;C | snv | 4 | |||
rs9939609 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 98 | ||
rs1554888939 | 0.683 | 0.640 | 9 | 137798823 | missense variant | G/T | snv | 58 | |||
rs1042714 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 54 | ||
rs1014959895 | 0.763 | 0.360 | 16 | 68329105 | stop gained | G/C;T | snv | 4.0E-06; 1.6E-05 | 16 | ||
rs1420472625 | 0.925 | 0.040 | 19 | 54178800 | missense variant | G/C | snv | 2 | |||
rs4588 | 0.597 | 0.720 | 4 | 71752606 | missense variant | G/A;T | snv | 1.6E-05; 0.25 | 53 | ||
rs11591147 | 0.677 | 0.360 | 1 | 55039974 | missense variant | G/A;T | snv | 1.2E-02 | 28 |