Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs4880 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 131 | |
rs2476601 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 121 | |
rs231775 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 115 | ||
rs1800796 | 0.555 | 0.760 | 7 | 22726627 | non coding transcript exon variant | G/C | snv | 9.9E-02 | 74 | ||
rs7574865 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 59 | ||
rs3087243 | 0.623 | 0.720 | 2 | 203874196 | downstream gene variant | G/A | snv | 0.37 | 44 | ||
rs1050450 | 0.623 | 0.600 | 3 | 49357401 | missense variant | G/A | snv | 0.28 | 0.30 | 43 | |
rs5742909 | 0.614 | 0.680 | 2 | 203867624 | upstream gene variant | C/T | snv | 6.7E-02 | 40 | ||
rs4553808 | 0.672 | 0.320 | 2 | 203866282 | upstream gene variant | A/G;T | snv | 0.16 | 28 | ||
rs4148323 | 0.701 | 0.440 | 2 | 233760498 | missense variant | G/A | snv | 2.2E-02 | 9.2E-03 | 22 | |
rs2287622 | 0.724 | 0.240 | 2 | 168973818 | missense variant | A/C;G;T | snv | 0.57 | 16 | ||
rs2306283 | 0.742 | 0.320 | 12 | 21176804 | missense variant | A/G;T | snv | 0.47 | 16 | ||
rs1041983 | 0.732 | 0.240 | 8 | 18400285 | synonymous variant | C/T | snv | 0.34 | 0.36 | 15 | |
rs733618 | 0.763 | 0.440 | 2 | 203866221 | upstream gene variant | T/C | snv | 0.10 | 12 | ||
rs1495741 | 0.827 | 0.240 | 8 | 18415371 | regulatory region variant | G/A | snv | 0.71 | 9 | ||
rs1966862 | 0.790 | 0.120 | 4 | 85766908 | intron variant | A/G | snv | 0.14 | 8 | ||
rs3135388 | 0.807 | 0.240 | 6 | 32445274 | downstream gene variant | A/G | snv | 0.90 | 7 | ||
rs2741045 | 2 | 233671494 | intron variant | C/T | snv | 0.22 | 4 | ||||
rs9274407 | 0.925 | 0.120 | 6 | 32665055 | missense variant | A/C;T | snv | 0.77 | 3 | ||
rs116561224 | 1.000 | 0.080 | 18 | 66962261 | intergenic variant | A/G | snv | 7.4E-02 | 2 | ||
rs72631567 | 1.000 | 0.080 | 2 | 5092045 | intergenic variant | A/G | snv | 4.5E-02 | 2 | ||
rs1214110864 | 1.000 | 0.040 | 7 | 87408071 | missense variant | A/T | snv | 2 | |||
rs80292941 | 1.000 | 0.040 | 2 | 87480257 | non coding transcript exon variant | A/T | snv | 0.16 | 2 | ||
rs114577328 | 1.000 | 0.080 | 6 | 29959505 | downstream gene variant | G/C | snv | 1.3E-02 | 2 | ||
rs17036170 | 1.000 | 0.080 | 3 | 12288912 | 5 prime UTR variant | G/A | snv | 1.1E-02 | 2 |