Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1061170 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 72 | |
rs11591147 | 0.677 | 0.360 | 1 | 55039974 | missense variant | G/A;T | snv | 1.2E-02 | 28 | ||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1458766475 | 0.637 | 0.680 | 1 | 169732649 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 41 | ||
rs17465637 | 0.790 | 0.200 | 1 | 222650187 | intron variant | A/C;G;T | snv | 0.64; 6.4E-06 | 11 | ||
rs1800871 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 108 | ||
rs1800872 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 119 | ||
rs20417 | 0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv | 57 | |||
rs2453021 | 0.807 | 0.080 | 1 | 7929506 | intron variant | C/A;T | snv | 6 | |||
rs3091244 | 0.724 | 0.280 | 1 | 159714875 | upstream gene variant | G/A;T | snv | 17 | |||
rs3850641 | 0.716 | 0.400 | 1 | 173206693 | intron variant | A/G | snv | 0.14 | 17 | ||
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs5361 | 0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 | 47 | |
rs599839 | 0.724 | 0.360 | 1 | 109279544 | downstream gene variant | G/A;C | snv | 27 | |||
rs6136 | 0.752 | 0.440 | 1 | 169594713 | missense variant | T/G | snv | 8.2E-02 | 7.5E-02 | 17 | |
rs699 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 134 | |
rs80356814 | 0.732 | 0.320 | 1 | 156138697 | synonymous variant | C/T | snv | 8.0E-06 | 15 | ||
rs1010 | 0.807 | 0.120 | 2 | 85581859 | 3 prime UTR variant | T/C;G | snv | 7 | |||
rs2943634 | 0.763 | 0.200 | 2 | 226203364 | intergenic variant | A/C;G | snv | 15 | |||
rs1801282 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 131 | |
rs1805192 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 121 | |||
rs185847354 | 0.763 | 0.160 | 3 | 186854460 | missense variant | T/C | snv | 3.1E-04 | 7.0E-05 | 11 | |
rs2518136 | 0.851 | 0.120 | 3 | 186620038 | intron variant | T/C | snv | 0.46 | 4 | ||
rs3732378 | 0.620 | 0.720 | 3 | 39265671 | missense variant | G/A | snv | 0.14 | 0.12 | 48 | |
rs3732379 | 0.637 | 0.680 | 3 | 39265765 | missense variant | C/T | snv | 0.22 | 0.22 | 38 |