Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs55951658 | 0.827 | 0.200 | 7 | 99770202 | missense variant | T/A;C | snv | 4.1E-04 | 9.8E-05 | 7 | |
rs16867253 | 0.851 | 0.120 | 2 | 9956965 | intron variant | G/T | snv | 5.8E-02 | 7 | ||
rs1693482 | 0.807 | 0.240 | 4 | 99342808 | missense variant | C/T | snv | 0.34 | 0.31 | 12 | |
rs1229984 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 83 | ||
rs531564 | 0.672 | 0.480 | 8 | 9903189 | non coding transcript exon variant | G/C | snv | 0.14 | 27 | ||
rs4900384 | 0.882 | 0.160 | 14 | 98032614 | intergenic variant | A/G | snv | 0.40 | 4 | ||
rs1057515576 | 0.807 | 0.280 | 3 | 97787991 | frameshift variant | TAT/GAAAA | delins | 9 | |||
rs931891 | 1.000 | 0.040 | 15 | 97749977 | intron variant | C/A | snv | 6.4E-02 | 2 | ||
rs1052133 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 147 | |
rs2072668 | 0.732 | 0.280 | 3 | 9756456 | intron variant | C/G | snv | 0.28 | 0.24 | 14 | |
rs755725121 | 0.882 | 0.080 | 1 | 9716029 | missense variant | G/A | snv | 2.1E-05 | 7.0E-06 | 4 | |
rs1206634 | 1.000 | 0.040 | X | 96302380 | intron variant | T/A;G | snv | 2 | |||
rs527330902 | 1.000 | 0.040 | 13 | 95760205 | missense variant | C/A | snv | 1.2E-05 | 2 | ||
rs757431022 | 0.925 | 0.120 | 10 | 95432529 | missense variant | G/A | snv | 1.4E-04 | 4.2E-05 | 3 | |
rs2281939 | 0.790 | 0.320 | 10 | 95414595 | missense variant | T/C | snv | 8.2E-02 | 0.13 | 9 | |
rs12026 | 0.827 | 0.240 | 7 | 95411704 | missense variant | G/C | snv | 0.27 | 0.27 | 6 | |
rs7493 | 0.677 | 0.440 | 7 | 95405463 | missense variant | G/C | snv | 0.27 | 0.27 | 24 | |
rs854560 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 113 | ||
rs2296966 | 1.000 | 0.040 | 10 | 95314667 | 3 prime UTR variant | G/A | snv | 6.0E-02 | 2 | ||
rs662 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 157 | |
rs2236242 | 0.776 | 0.280 | 14 | 94493715 | intron variant | T/A | snv | 0.31 | 9 | ||
rs10830963 | 0.776 | 0.400 | 11 | 92975544 | intron variant | C/G | snv | 0.22 | 27 | ||
rs7936247 | 1.000 | 0.040 | 11 | 92956866 | intergenic variant | G/T | snv | 0.37 | 5 | ||
rs4905014 | 0.851 | 0.120 | 14 | 92945686 | intron variant | G/A;C | snv | 16 | |||
rs1387153 | 0.807 | 0.200 | 11 | 92940662 | downstream gene variant | C/G;T | snv | 10 |