Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs25487 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 205 | |
rs2736098 | 0.600 | 0.600 | 5 | 1293971 | synonymous variant | C/T | snv | 0.29 | 0.22 | 48 | |
rs2736100 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 83 | ||
rs3024994 | 0.776 | 0.120 | 6 | 43775770 | non coding transcript exon variant | C/T | snv | 3.8E-02 | 8 | ||
rs3092993 | 0.827 | 0.040 | 11 | 108364388 | intron variant | C/A | snv | 0.11 | 5 | ||
rs374524467 | 0.827 | 0.040 | 4 | 110632961 | missense variant | A/C | snv | 8.0E-06 | 7.0E-06 | 5 | |
rs4295627 | 0.763 | 0.200 | 8 | 129673211 | intron variant | T/G | snv | 0.17 | 11 | ||
rs4977756 | 0.683 | 0.440 | 9 | 22068653 | intron variant | G/A | snv | 0.64 | 24 | ||
rs498872 | 0.776 | 0.240 | 11 | 118606652 | 5 prime UTR variant | A/G;T | snv | 10 | |||
rs55819519 | 0.627 | 0.400 | 17 | 7673751 | missense variant | C/A;G;T | snv | 1.6E-04 | 1.3E-04 | 40 | |
rs6010620 | 0.701 | 0.360 | 20 | 63678486 | intron variant | A/C;G | snv | 21 | |||
rs753152604 | 0.827 | 0.040 | 12 | 57751680 | missense variant | C/A | snv | 7 | |||
rs833061 | 0.605 | 0.600 | 6 | 43769749 | upstream gene variant | C/G;T | snv | 42 | |||
rs861539 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 104 | |
rs865880036 | 0.827 | 0.040 | 15 | 37098156 | missense variant | A/C | snv | 1.3E-04 | 5 | ||
rs121913377 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 480 | |||
rs878854066 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 213 | |||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 |