Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs8067378 | 0.752 | 0.240 | 17 | 39895095 | regulatory region variant | A/G | snv | 0.50 | 12 | ||
rs13293512 | 0.763 | 0.360 | 9 | 94167461 | intron variant | T/C | snv | 0.24 | 11 | ||
rs9277952 | 0.851 | 0.080 | 6 | 33236497 | upstream gene variant | G/A | snv | 0.10 | 4 | ||
rs4957014 | 0.752 | 0.160 | 5 | 287899 | intron variant | T/G | snv | 0.74 | 11 | ||
rs1049216 | 0.790 | 0.200 | 4 | 184628935 | 3 prime UTR variant | A/G | snv | 0.27 | 9 | ||
rs727088 | 0.790 | 0.400 | 18 | 69863203 | 3 prime UTR variant | G/A | snv | 0.47 | 8 | ||
rs853360 | 1.000 | 0.080 | 6 | 14134361 | intron variant | T/C | snv | 0.74 | 1 | ||
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 | |
rs13117307 | 0.827 | 0.080 | 4 | 55885574 | intron variant | C/T | snv | 0.21 | 6 | ||
rs11614913 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 111 | |
rs9298814 | 0.790 | 0.160 | 9 | 21227623 | missense variant | A/C;G | snv | 0.12; 8.8E-06 | 7 | ||
rs9610 | 0.882 | 0.240 | 11 | 118001371 | 3 prime UTR variant | G/A;T | snv | 0.51 | 4 | ||
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 | |||
rs3783553 | 0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins | 26 | |||
rs3024656 | 1.000 | 0.080 | 16 | 27358288 | intron variant | G/A | snv | 0.20 | 1 | ||
rs10420685 | 1.000 | 0.080 | 19 | 40729215 | synonymous variant | A/G | snv | 7.2E-02 | 9.7E-02 | 1 | |
rs28493229 | 0.925 | 0.200 | 19 | 40718299 | intron variant | G/A;C | snv | 6.0E-06; 0.12 | 3 | ||
rs2229634 | 0.851 | 0.240 | 6 | 33670403 | synonymous variant | C/A;T | snv | 4.0E-06; 0.33 | 4 | ||
rs3748079 | 0.925 | 0.160 | 6 | 33620370 | 5 prime UTR variant | C/T | snv | 0.18 | 2 | ||
rs712 | 0.677 | 0.360 | 12 | 25209618 | 3 prime UTR variant | A/C | snv | 0.46 | 24 | ||
rs10877887 | 0.701 | 0.440 | 12 | 62603400 | non coding transcript exon variant | T/C | snv | 0.42 | 18 | ||
rs2029167 | 0.925 | 0.080 | 12 | 54196349 | intergenic variant | G/A | snv | 0.52 | 3 | ||
rs2029166 | 1.000 | 0.080 | 12 | 54196315 | intergenic variant | C/T | snv | 0.33 | 1 |