Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs9657182 | 0.851 | 0.280 | 8 | 39908329 | intron variant | C/G;T | snv | 6 | |||
rs916171 | 1.000 | 0.120 | 4 | 3215088 | intron variant | C/G | snv | 0.42 | 0.47 | 1 | |
rs878854066 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 213 | |||
rs82333 | 1.000 | 0.120 | 4 | 3223662 | intron variant | A/C;G | snv | 1 | |||
rs8099917 | 0.581 | 0.600 | 19 | 39252525 | upstream gene variant | T/G | snv | 0.16 | 60 | ||
rs7895833 | 0.742 | 0.440 | 10 | 67863299 | upstream gene variant | G/A;C | snv | 12 | |||
rs771845093 | 0.925 | 0.160 | 1 | 12005903 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 3 | |
rs7658462 | 1.000 | 0.120 | 4 | 3281695 | intergenic variant | C/T | snv | 0.16 | 1 | ||
rs7652589 | 0.732 | 0.400 | 3 | 122170241 | downstream gene variant | A/G | snv | 0.60 | 13 | ||
rs762847 | 1.000 | 0.120 | 4 | 2910336 | intron variant | A/G | snv | 0.54 | 1 | ||
rs759834365 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 237 | ||
rs75932628 | 0.662 | 0.480 | 6 | 41161514 | missense variant | C/A;T | snv | 6.8E-05; 2.6E-03 | 28 | ||
rs756573441 | 1.000 | 0.120 | 7 | 134933359 | missense variant | A/G;T | snv | 4.2E-06 | 1 | ||
rs7435601 | 1.000 | 0.120 | 4 | 3367918 | intron variant | T/C | snv | 0.70 | 1 | ||
rs73786719 | 1.000 | 0.120 | 6 | 146716848 | intron variant | C/A | snv | 1.7E-02 | 3.3E-02 | 1 | |
rs731236 | 0.542 | 0.760 | 12 | 47844974 | synonymous variant | A/G | snv | 0.33 | 0.34 | 81 | |
rs71358386 | 1.000 | 0.120 | 17 | 16047840 | intron variant | T/C | snv | 4.1E-02 | 1 | ||
rs7120118 | 0.716 | 0.360 | 11 | 47264739 | intron variant | T/C | snv | 0.38 | 18 | ||
rs71180116 | 1.000 | 0.120 | 4 | 3074877 | inframe insertion | GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA/-;GCA;GCAGCA;GCAGCAGCA;GCAGCAGCAGCA;GCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA;GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA | delins | 0.14 | 1 | ||
rs7069102 | 0.790 | 0.440 | 10 | 67903362 | intron variant | C/G | snv | 0.64 | 10 | ||
rs704352 | 1.000 | 0.120 | 4 | 2484759 | intron variant | C/A;T | snv | 0.20 | 1 | ||
rs6855981 | 1.000 | 0.120 | 4 | 3146549 | intron variant | G/A | snv | 0.34 | 2 | ||
rs6446740 | 1.000 | 0.120 | 4 | 3407656 | intron variant | G/A | snv | 0.57 | 1 | ||
rs644236 | 0.882 | 0.320 | 5 | 31409008 | non coding transcript exon variant | T/C | snv | 0.31 | 0.35 | 5 | |
rs6265 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 272 |