Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs699 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 134 | |
rs5361 | 0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 | 47 | |
rs1205 | 0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 | 46 | ||
rs3850641 | 0.716 | 0.400 | 1 | 173206693 | intron variant | A/G | snv | 0.14 | 17 | ||
rs12740374 | 0.851 | 0.040 | 1 | 109274968 | 3 prime UTR variant | G/T | snv | 0.22 | 16 | ||
rs7528419 | 0.851 | 0.080 | 1 | 109274570 | 3 prime UTR variant | A/G | snv | 0.23 | 13 | ||
rs17568 | 0.752 | 0.320 | 1 | 1212042 | synonymous variant | C/T | snv | 0.37 | 0.31 | 12 | |
rs5065 | 0.763 | 0.240 | 1 | 11846011 | stop lost | A/G | snv | 0.14 | 0.21 | 12 | |
rs1234314 | 0.790 | 0.320 | 1 | 173208253 | upstream gene variant | C/A;G | snv | 7 | |||
rs12566888 | 0.807 | 0.280 | 1 | 156899255 | intron variant | G/T | snv | 0.26 | 7 | ||
rs11573156 | 0.882 | 0.240 | 1 | 19979653 | 5 prime UTR variant | G/C | snv | 0.19 | 5 | ||
rs2768759 | 0.851 | 0.200 | 1 | 156882671 | downstream gene variant | A/C;G | snv | 4 | |||
rs822442 | 0.851 | 0.160 | 1 | 156913423 | missense variant | C/A;T | snv | 0.14; 4.0E-06 | 4 | ||
rs201052613 | 0.882 | 0.080 | 1 | 173026503 | intron variant | T/-;TT | delins | 9.4E-03 | 3 | ||
rs3737224 | 0.882 | 0.160 | 1 | 156909788 | synonymous variant | C/T | snv | 0.14 | 0.13 | 3 | |
rs41273215 | 0.882 | 0.160 | 1 | 156912167 | intron variant | C/T | snv | 0.13 | 3 | ||
rs747112750 | 1.000 | 0.040 | 1 | 202307363 | synonymous variant | C/T | snv | 4.0E-06 | 1 | ||
rs693 | 0.708 | 0.440 | 2 | 21009323 | synonymous variant | G/A | snv | 0.39 | 0.38 | 24 | |
rs4668123 | 0.851 | 0.280 | 2 | 169196995 | missense variant | C/A;G;T | snv | 6 | |||
rs2075252 | 0.925 | 0.160 | 2 | 169154475 | stop gained | T/A;C | snv | 0.76 | 5 | ||
rs5940 | 0.882 | 0.080 | 2 | 187466977 | missense variant | C/T | snv | 1.3E-02 | 1.4E-02 | 3 | |
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 | |||
rs3732378 | 0.620 | 0.720 | 3 | 39265671 | missense variant | G/A | snv | 0.14 | 0.12 | 48 |