Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs3130048 | 1.000 | 0.120 | 6 | 31645962 | intron variant | T/C | snv | 0.23 | 3 | ||
rs2294881 | 1.000 | 0.040 | 6 | 32399827 | intron variant | T/C | snv | 0.19 | 3 | ||
rs28366298 | 0.925 | 0.120 | 6 | 32593082 | upstream gene variant | A/C;T | snv | 3 | |||
rs12759054 | 1.000 | 0.040 | 1 | 233984064 | intron variant | T/A;C | snv | 3 | |||
rs10947262 | 0.925 | 0.040 | 6 | 32405535 | non coding transcript exon variant | C/T | snv | 0.12 | 3 | ||
rs6901541 | 1.000 | 0.120 | 6 | 32474484 | upstream gene variant | T/C;G | snv | 2 | |||
rs7754768 | 1.000 | 0.040 | 6 | 32452402 | regulatory region variant | C/T | snv | 0.56 | 2 | ||
rs3130628 | 1.000 | 0.120 | 6 | 31641495 | non coding transcript exon variant | T/C | snv | 0.15 | 0.18 | 2 | |
rs28362683 | 1.000 | 0.040 | 6 | 32405186 | synonymous variant | G/A | snv | 0.12 | 0.10 | 2 | |
rs2213585 | 1.000 | 0.040 | 6 | 32445373 | downstream gene variant | G/A | snv | 0.61 | 2 | ||
rs2213586 | 1.000 | 0.040 | 6 | 32445317 | downstream gene variant | A/G | snv | 0.61 | 2 | ||
rs4935356 | 1.000 | 0.080 | 6 | 32444611 | intron variant | T/A;G | snv | 2 | |||
rs7195 | 1.000 | 0.040 | 6 | 32444762 | 3 prime UTR variant | A/G | snv | 0.61 | 2 | ||
rs8084 | 1.000 | 0.120 | 6 | 32443258 | splice acceptor variant | A/C;T | snv | 0.61; 8.1E-06 | 2 | ||
rs9268658 | 1.000 | 0.040 | 6 | 32442939 | intron variant | G/A;C | snv | 2 | |||
rs9267532 | 1.000 | 0.120 | 6 | 31672202 | missense variant | C/T | snv | 7.4E-02 | 7.9E-02 | 2 | |
rs2736157 | 1.000 | 0.120 | 6 | 31633043 | intron variant | A/G;T | snv | 0.15 | 0.17 | 2 | |
rs204995 | 1.000 | 0.120 | 6 | 32186508 | non coding transcript exon variant | A/G | snv | 0.21 | 0.27 | 2 | |
rs3130626 | 1.000 | 0.120 | 6 | 31630712 | synonymous variant | A/G | snv | 0.15 | 0.17 | 2 | |
rs2294882 | 6 | 32399738 | intron variant | T/C | snv | 0.19 | 2 | ||||
rs4248166 | 1.000 | 0.040 | 6 | 32398644 | intron variant | T/C | snv | 0.18 | 2 | ||
rs12154141 | 6 | 62460168 | downstream gene variant | A/C | snv | 0.20 | 1 | ||||
rs138117677 | 16 | 3348899 | TF binding site variant | GGGACT/- | delins | 2.8E-02 | 1 | ||||
rs200688486 | 6 | 32621223 | regulatory region variant | -/T | delins | 1 | |||||
rs2153486 | 14 | 87737048 | intron variant | C/T | snv | 0.68 | 1 |