Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs765771575 | 0.882 | 0.080 | 7 | 116782017 | missense variant | T/C;G | snv | 4.0E-06; 4.0E-06 | 3 | ||
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1801133 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 174 | |
rs201668878 | 0.882 | 0.080 | 11 | 118373576 | missense variant | T/C | snv | 1.7E-04 | 1.0E-04 | 4 | |
rs7652589 | 0.732 | 0.400 | 3 | 122170241 | downstream gene variant | A/G | snv | 0.60 | 13 | ||
rs1501899 | 0.790 | 0.240 | 3 | 122188481 | intron variant | A/G | snv | 0.62 | 8 | ||
rs1801725 | 0.633 | 0.600 | 3 | 122284910 | missense variant | G/T | snv | 0.13 | 0.11 | 39 | |
rs1057520018 | 0.807 | 0.080 | 19 | 1223124 | missense variant | T/C | snv | 6 | |||
rs59912467 | 0.790 | 0.120 | 19 | 1223126 | missense variant | C/G;T | snv | 5.2E-03; 4.1E-06 | 7 | ||
rs780294601 | 0.851 | 0.080 | 3 | 12416967 | missense variant | G/C | snv | 4.4E-05 | 1.4E-05 | 4 | |
rs430397 | 0.763 | 0.240 | 9 | 125238840 | intron variant | C/T | snv | 9.1E-02 | 0.11 | 9 | |
rs391957 | 0.763 | 0.240 | 9 | 125241745 | non coding transcript exon variant | T/C | snv | 0.72 | 10 | ||
rs1415224147 | 0.882 | 0.080 | 9 | 125585715 | missense variant | T/C | snv | 3 | |||
rs34330 | 0.724 | 0.280 | 12 | 12717761 | 5 prime UTR variant | T/C | snv | 0.70 | 15 | ||
rs11103603 | 0.851 | 0.080 | 9 | 134449754 | TF binding site variant | T/C | snv | 0.46 | 4 | ||
rs2276466 | 0.732 | 0.320 | 16 | 13949318 | 3 prime UTR variant | C/A;G | snv | 15 | |||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs2229090 | 0.827 | 0.160 | 3 | 14145845 | 3 prime UTR variant | G/C | snv | 0.25 | 0.22 | 6 | |
rs2228000 | 0.585 | 0.560 | 3 | 14158387 | missense variant | G/A | snv | 0.24 | 0.21 | 53 | |
rs2213212 | 1.000 | 0.040 | 7 | 142698925 | downstream gene variant | A/C | snv | 0.63 | 1 | ||
rs2027801 | 1.000 | 0.040 | 7 | 142712861 | upstream gene variant | G/A | snv | 0.48 | 1 | ||
rs17251 | 0.925 | 0.120 | 7 | 142715462 | intron variant | C/A | snv | 0.33 | 0.37 | 3 | |
rs4726572 | 1.000 | 0.040 | 7 | 142717016 | upstream gene variant | C/A | snv | 7.9E-02 | 1 |