Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1051208 | 1.000 | 0.080 | 3 | 12584248 | 3 prime UTR variant | G/A;C;T | snv | 1 | |||
rs1051424 | 0.925 | 0.080 | 17 | 59946963 | 3 prime UTR variant | A/G | snv | 0.15 | 3 | ||
rs1051624 | 1.000 | 0.080 | 8 | 94130944 | missense variant | T/A;G | snv | 2.0E-05; 0.51 | 1 | ||
rs1051669 | 1.000 | 0.080 | 12 | 913286 | 3 prime UTR variant | C/T | snv | 0.25 | 1 | ||
rs1051690 | 0.851 | 0.080 | 19 | 7116952 | 3 prime UTR variant | T/C | snv | 0.83 | 4 | ||
rs1051740 | 0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 | 56 | |
rs10519097 | 0.708 | 0.320 | 15 | 60997989 | intron variant | C/T | snv | 0.13 | 18 | ||
rs1052133 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 147 | |
rs1052371 | 1.000 | 0.080 | 19 | 7112582 | 3 prime UTR variant | G/A | snv | 0.23 | 1 | ||
rs1052748 | 0.925 | 0.080 | 17 | 4817174 | missense variant | C/T | snv | 0.39 | 0.36 | 2 | |
rs1052918 | 1.000 | 0.080 | 19 | 1609670 | 3 prime UTR variant | T/A;C | snv | 1 | |||
rs1056827 | 0.683 | 0.400 | 2 | 38075034 | missense variant | C/A | snv | 0.32 | 0.35 | 24 | |
rs1056836 | 0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 | 58 | ||
rs1057035 | 0.763 | 0.440 | 14 | 95087805 | 3 prime UTR variant | T/C | snv | 0.26 | 12 | ||
rs1057517457 | 0.851 | 0.120 | 1 | 45332804 | frameshift variant | GCCAGCCCAG/- | delins | 7.0E-06 | 6 | ||
rs1057519365 | 0.851 | 0.320 | 17 | 61780931 | frameshift variant | TT/- | delins | 5 | |||
rs1057519366 | 1.000 | 0.080 | 9 | 95150014 | frameshift variant | G/-;GG | delins | 1 | |||
rs1057519367 | 1.000 | 0.080 | 6 | 111405476 | missense variant | T/A | snv | 8.7E-06 | 1 | ||
rs1057519695 | 0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv | 35 | |||
rs1057519738 | 0.790 | 0.160 | 17 | 39725079 | missense variant | G/A | snv | 4.0E-06 | 10 | ||
rs1057519739 | 1.000 | 0.080 | 18 | 51065518 | missense variant | G/A;C | snv | 2 | |||
rs1057519834 | 0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv | 31 | |||
rs1057519860 | 0.851 | 0.080 | 7 | 55160316 | missense variant | C/A | snv | 5 | |||
rs1057519890 | 0.807 | 0.200 | 17 | 39723966 | missense variant | T/A | snv | 8 | |||
rs1057519895 | 0.724 | 0.240 | 4 | 152328232 | missense variant | C/A;G;T | snv | 17 |