Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1800872 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 119 | ||
rs2275913 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 105 | ||
rs6983267 | 0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 | 62 | ||
rs4938723 | 0.574 | 0.680 | 11 | 111511840 | intron variant | T/C | snv | 0.32 | 60 | ||
rs3918242 | 0.602 | 0.680 | 20 | 46007337 | upstream gene variant | C/T | snv | 0.14 | 54 | ||
rs920778 | 0.633 | 0.480 | 12 | 53966448 | intron variant | G/A | snv | 0.57 | 36 | ||
rs4444903 | 0.630 | 0.360 | 4 | 109912954 | 5 prime UTR variant | A/G | snv | 0.51 | 35 | ||
rs1800682 | 0.637 | 0.440 | 10 | 88990206 | non coding transcript exon variant | A/G | snv | 0.54 | 32 | ||
rs760043106 | 0.645 | 0.440 | 17 | 7674947 | missense variant | A/C;G;T | snv | 32 | |||
rs1447295 | 0.658 | 0.400 | 8 | 127472793 | intron variant | A/C;T | snv | 29 | |||
rs6214 | 0.672 | 0.400 | 12 | 102399791 | 3 prime UTR variant | C/T | snv | 0.45 | 26 | ||
rs4135385 | 0.742 | 0.320 | 3 | 41237949 | non coding transcript exon variant | A/G | snv | 0.19 | 14 | ||
rs6713088 | 0.763 | 0.200 | 2 | 54118332 | intron variant | C/G | snv | 0.48 | 9 | ||
rs6898743 | 0.776 | 0.160 | 5 | 42602390 | intron variant | C/G | snv | 0.78 | 9 | ||
rs11896604 | 0.776 | 0.200 | 2 | 54252062 | intron variant | C/A;G;T | snv | 8 | |||
rs386656364 | 0.807 | 0.160 | 2 | 233682328 | missense variant | CG/AA | mnv | 8 | |||
rs771314938 | 0.807 | 0.160 | 2 | 233682328 | frameshift variant | CG/- | del | 8 | |||
rs879625015 | 0.807 | 0.160 | 2 | 233682328 | frameshift variant | CG/A | delins | 8 | |||
rs843711 | 0.790 | 0.200 | 2 | 54251980 | intron variant | C/T | snv | 0.41 | 7 | ||
rs587778964 | 0.882 | 0.160 | 3 | 37048604 | missense variant | A/C;T | snv | 4 | |||
rs4751240 | 0.882 | 0.120 | 10 | 127338145 | intron variant | G/A | snv | 9.0E-02 | 3 | ||
rs63750070 | 0.882 | 0.160 | 2 | 47410245 | missense variant | T/C;G | snv | 3 | |||
rs41526344 | 0.925 | 0.120 | 3 | 2943458 | intron variant | G/A | snv | 7.5E-02 | 2 | ||
rs63751067 | 1.000 | 0.080 | 2 | 47410244 | frameshift variant | CTAGGACTGTGT/A | delins | 1 | |||
rs876661188 | 1.000 | 0.080 | 3 | 37050573 | missense variant | C/T | snv | 1 |