Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs61816761 | 0.658 | 0.640 | 1 | 152313385 | stop gained | G/A;T | snv | 9.4E-03; 8.0E-06 | 43 | ||
rs5743618 | 0.677 | 0.360 | 4 | 38797027 | missense variant | C/A | snv | 0.53 | 0.51 | 25 | |
rs3939286 | 0.776 | 0.360 | 9 | 6210099 | regulatory region variant | T/A;C | snv | 12 | |||
rs1837253 | 0.790 | 0.240 | 5 | 111066174 | upstream gene variant | T/C | snv | 0.72 | 10 | ||
rs112401631 | 0.882 | 0.120 | 17 | 40608272 | TF binding site variant | T/A | snv | 1.1E-02 | 8 | ||
rs34290285 | 0.851 | 0.120 | 2 | 241759225 | intron variant | G/A | snv | 0.27 | 8 | ||
rs16903574 | 0.882 | 0.120 | 5 | 14610200 | missense variant | C/A;G | snv | 4.0E-06; 5.6E-02 | 6 | ||
rs17454584 | 0.851 | 0.080 | 4 | 122432277 | downstream gene variant | A/G | snv | 0.17 | 6 | ||
rs479844 | 0.851 | 0.160 | 11 | 65784486 | upstream gene variant | A/G | snv | 0.44 | 6 | ||
rs12365699 | 0.882 | 0.120 | 11 | 118872577 | regulatory region variant | G/A | snv | 0.12 | 5 | ||
rs12123821 | 0.925 | 0.080 | 1 | 152206676 | intron variant | C/T | snv | 2.9E-02 | 4 | ||
rs3749833 | 0.925 | 0.080 | 5 | 132463934 | non coding transcript exon variant | T/C | snv | 0.23 | 4 | ||
rs13099273 | 1.000 | 0.080 | 3 | 188415730 | intron variant | A/G;T | snv | 3 | |||
rs36045143 | 1.000 | 0.080 | 16 | 11131109 | intron variant | A/G | snv | 0.18 | 3 | ||
rs697852 | 1 | 226727033 | intron variant | G/A | snv | 0.82 | 3 | ||||
rs891058 | 1.000 | 0.040 | 2 | 8302417 | non coding transcript exon variant | G/A | snv | 0.23 | 3 | ||
rs9889262 | 17 | 49320708 | intron variant | T/A | snv | 0.28 | 3 | ||||
rs2197415 | 10 | 9020893 | intergenic variant | T/G | snv | 0.66 | 2 | ||||
rs6011033 | 20 | 63691346 | intron variant | A/G;T | snv | 2 | |||||
rs73078636 | 3 | 51403873 | intron variant | G/A | snv | 9.7E-02 | 2 |