Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs730880284 | 1 | 169612928 | splice donor variant | C/G;T | snv | 2.8E-05 | 1 | ||||
rs11573191 | 1.000 | 0.040 | 1 | 20069922 | intron variant | G/A | snv | 0.18 | 2 | ||
rs137854498 | 1.000 | 0.120 | 9 | 104798504 | missense variant | G/A;T | snv | 8.0E-06; 8.0E-06 | 3 | ||
rs761646500 | 0.925 | 0.080 | 6 | 169237763 | missense variant | C/G | snv | 4.0E-06 | 3 | ||
rs3869109 | 0.851 | 0.160 | 6 | 31216419 | intergenic variant | A/G;T | snv | 5 | |||
rs121918394 | 0.882 | 0.080 | 19 | 44908786 | missense variant | A/C;G | snv | 6.5E-06 | 5 | ||
rs2857656 | 0.851 | 0.120 | 17 | 34254988 | upstream gene variant | G/A;C | snv | 5 | |||
rs40837 | 0.925 | 0.120 | 16 | 28499524 | 3 prime UTR variant | A/G | snv | 0.43 | 5 | ||
rs1800849 | 0.851 | 0.160 | 11 | 74009120 | upstream gene variant | G/A;T | snv | 5 | |||
rs2026458 | 0.882 | 0.080 | 6 | 12825642 | intron variant | C/T | snv | 0.34 | 6 | ||
rs150016118 | 0.882 | 0.120 | 11 | 74006339 | missense variant | A/G | snv | 1.7E-05 | 6.3E-05 | 6 | |
rs777659543 | 0.882 | 0.120 | 11 | 74006231 | missense variant | G/A | snv | 4.0E-06 | 6 | ||
rs11171806 | 0.807 | 0.360 | 12 | 56339747 | synonymous variant | G/A | snv | 4.9E-02 | 4.5E-02 | 7 | |
rs2066808 | 0.807 | 0.280 | 12 | 56344189 | intron variant | A/G | snv | 0.21 | 8 | ||
rs35385902 | 0.807 | 0.240 | 4 | 99347122 | missense variant | C/A;T | snv | 2.0E-05; 1.1E-03 | 9 | ||
rs26528 | 0.807 | 0.200 | 16 | 28506388 | intron variant | T/C | snv | 0.43 | 9 | ||
rs1866389 | 0.790 | 0.080 | 5 | 80065442 | missense variant | G/C | snv | 0.17 | 0.17 | 9 | |
rs2228262 | 0.763 | 0.200 | 15 | 39589977 | missense variant | A/G | snv | 7.9E-02 | 8.0E-02 | 10 | |
rs5888 | 0.752 | 0.200 | 12 | 124800202 | synonymous variant | A/G;T | snv | 0.59; 4.0E-06 | 11 | ||
rs1177506410 | 0.776 | 0.240 | 1 | 230706148 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 12 | |
rs1275805226 | 0.776 | 0.240 | 1 | 230706148 | frameshift variant | G/- | del | 7.0E-06 | 12 | ||
rs9282541 | 0.790 | 0.160 | 9 | 104858554 | missense variant | G/A | snv | 1.3E-02 | 4.4E-03 | 13 | |
rs7044343 | 0.752 | 0.520 | 9 | 6254208 | intron variant | C/T | snv | 0.51 | 13 | ||
rs659366 | 0.724 | 0.520 | 11 | 73983709 | non coding transcript exon variant | C/T | snv | 0.40 | 17 | ||
rs9349379 | 0.732 | 0.200 | 6 | 12903725 | intron variant | A/G | snv | 0.32 | 19 |