Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs35761398 | 0.701 | 0.520 | 1 | 23875429 | missense variant | TT/CC | mnv | 19 | |||
rs879761216 | 0.732 | 0.480 | 1 | 23875429 | frameshift variant | TT/C;T | delins | 14 | |||
rs1946518 | 0.602 | 0.760 | 11 | 112164735 | intron variant | T/G | snv | 0.60 | 46 | ||
rs9275141 | 0.827 | 0.240 | 6 | 32683340 | intergenic variant | T/G | snv | 0.50 | 6 | ||
rs2501432 | 0.716 | 0.480 | 1 | 23875430 | missense variant | T/C;G | snv | 0.62 | 16 | ||
rs7579944 | 0.882 | 0.200 | 2 | 30222160 | intergenic variant | T/C;G | snv | 5 | |||
rs11123810 | 0.925 | 0.200 | 2 | 100142823 | intron variant | T/C | snv | 0.37 | 2 | ||
rs16867384 | 0.925 | 0.200 | 2 | 181246479 | intron variant | T/C | snv | 0.19 | 2 | ||
rs1738074 | 0.790 | 0.320 | 6 | 159044945 | 5 prime UTR variant | T/C | snv | 0.49 | 9 | ||
rs4821124 | 0.851 | 0.240 | 22 | 21625000 | downstream gene variant | T/C | snv | 0.19 | 4 | ||
rs6651252 | 0.790 | 0.200 | 8 | 128554935 | intron variant | T/C | snv | 0.19 | 8 | ||
rs6696533 | 0.925 | 0.200 | 1 | 198764438 | intergenic variant | T/C | snv | 0.28 | 2 | ||
rs67676925 | 0.925 | 0.200 | 3 | 46232768 | intron variant | T/C | snv | 5.5E-02 | 2 | ||
rs763361 | 0.689 | 0.520 | 18 | 69864406 | missense variant | T/A;C | snv | 4.0E-06; 0.52 | 21 | ||
rs6822844 | 0.689 | 0.520 | 4 | 122588266 | regulatory region variant | G/T | snv | 0.10 | 20 | ||
rs10754558 | 0.695 | 0.480 | 1 | 247448734 | 3 prime UTR variant | G/C;T | snv | 20 | |||
rs1800796 | 0.555 | 0.760 | 7 | 22726627 | non coding transcript exon variant | G/C | snv | 9.9E-02 | 74 | ||
rs17849502 | 0.827 | 0.240 | 1 | 183563445 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06; 3.4E-02 | 5 | ||
rs11066188 | 0.851 | 0.320 | 12 | 112172910 | intron variant | G/A;C | snv | 0.30; 4.1E-06 | 7 | ||
rs11209026 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 46 | |
rs13397 | 0.925 | 0.200 | X | 153982797 | synonymous variant | G/A | snv | 0.27 | 0.15 | 2 | |
rs1799969 | 0.637 | 0.560 | 19 | 10284116 | missense variant | G/A | snv | 0.11 | 9.3E-02 | 38 | |
rs1800562 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 262 | |
rs1800629 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 169 | |
rs2275913 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 105 |