Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1042522 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 242 | ||
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs878854066 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 213 | |||
rs28362491 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 56 | |||
rs3783553 | 0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins | 26 | |||
rs3756712 | 0.790 | 0.160 | 5 | 308981 | non coding transcript exon variant | A/C;T | snv | 10 | |||
rs246079 | 0.790 | 0.120 | 12 | 109109255 | intron variant | A/G;T | snv | 9 | |||
rs9298814 | 0.790 | 0.160 | 9 | 21227623 | missense variant | A/C;G | snv | 0.12; 8.8E-06 | 7 | ||
rs2229634 | 0.851 | 0.240 | 6 | 33670403 | synonymous variant | C/A;T | snv | 4.0E-06; 0.33 | 4 | ||
rs9610 | 0.882 | 0.240 | 11 | 118001371 | 3 prime UTR variant | G/A;T | snv | 0.51 | 4 | ||
rs28493229 | 0.925 | 0.200 | 19 | 40718299 | intron variant | G/A;C | snv | 6.0E-06; 0.12 | 3 | ||
rs12494623 | 1.000 | 0.080 | 3 | 179214763 | intron variant | C/G;T | snv | 1 | |||
rs2229546 | 1.000 | 0.080 | 1 | 67395837 | synonymous variant | C/A;G;T | snv | 0.63; 1.2E-05; 2.4E-05 | 1 | ||
rs4297265 | 1.000 | 0.080 | 1 | 67386652 | synonymous variant | G/A;T | snv | 1 | |||
rs750553272 | 0.851 | 0.080 | 2 | 177230898 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 4 | |
rs3219218 | 0.851 | 0.120 | 12 | 109100430 | intron variant | A/G | snv | 1.9E-02 | 4 | ||
rs4282438 | 0.807 | 0.280 | 6 | 33104395 | intron variant | T/G | snv | 3.1E-02 | 6 | ||
rs16997517 | 0.925 | 0.200 | 22 | 36937894 | missense variant | C/T | snv | 2.6E-02 | 4.7E-02 | 2 | |
rs10420685 | 1.000 | 0.080 | 19 | 40729215 | synonymous variant | A/G | snv | 7.2E-02 | 9.7E-02 | 1 | |
rs9277952 | 0.851 | 0.080 | 6 | 33236497 | upstream gene variant | G/A | snv | 0.10 | 4 | ||
rs3181224 | 1.000 | 0.080 | 5 | 159313842 | intron variant | A/G | snv | 0.10 | 1 | ||
rs4705343 | 0.790 | 0.240 | 5 | 149428518 | non coding transcript exon variant | T/C | snv | 0.14 | 7 | ||
rs3748079 | 0.925 | 0.160 | 6 | 33620370 | 5 prime UTR variant | C/T | snv | 0.18 | 2 | ||
rs3746444 | 0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 | 105 | |
rs3024656 | 1.000 | 0.080 | 16 | 27358288 | intron variant | G/A | snv | 0.20 | 1 |