Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs8094402 | 0.882 | 0.120 | 18 | 76995493 | intron variant | A/G | snv | 0.25 | 3 | ||
rs587781386 | 0.882 | 0.120 | 17 | 7674889 | missense variant | A/C;G | snv | 3.2E-05; 4.0E-06 | 3 | ||
rs764562217 | 0.882 | 0.120 | 17 | 7673308 | stop lost | T/G | snv | 2.3E-05 | 3.5E-05 | 3 | |
rs17749561 | 0.925 | 0.120 | 18 | 63115978 | intergenic variant | G/A | snv | 5.9E-02 | 2 | ||
rs9275245 | 0.925 | 0.160 | 6 | 32693166 | intergenic variant | A/G;T | snv | 2 | |||
rs587776632 | 0.925 | 0.120 | 1 | 85267901 | frameshift variant | A/-;AAA | delins | 2 | |||
rs2855429 | 0.925 | 0.120 | 6 | 33190412 | intron variant | A/C | snv | 0.78 | 2 | ||
rs6444305 | 0.925 | 0.120 | 3 | 188582114 | intron variant | G/A;C;T | snv | 2 | |||
rs3789068 | 0.925 | 0.120 | 2 | 111151670 | intron variant | A/G | snv | 0.41 | 2 | ||
rs9275517 | 0.925 | 0.200 | 6 | 32706872 | non coding transcript exon variant | A/G | snv | 0.58 | 2 | ||
rs12717 | 0.925 | 0.160 | 6 | 170553212 | missense variant | G/C | snv | 0.42 | 0.38 | 2 | |
rs13198610 | 1.000 | 0.120 | 6 | 32457895 | downstream gene variant | G/T | snv | 0.13 | 1 | ||
rs28895078 | 1.000 | 0.120 | 6 | 32450114 | intergenic variant | C/A;G | snv | 0.13 | 1 | ||
rs28895103 | 1.000 | 0.120 | 6 | 32451687 | intergenic variant | G/A | snv | 0.13 | 1 | ||
rs28895171 | 1.000 | 0.120 | 6 | 32455244 | downstream gene variant | G/A | snv | 0.13 | 1 | ||
rs28895187 | 1.000 | 0.120 | 6 | 32456603 | downstream gene variant | G/A | snv | 0.13 | 1 | ||
rs35571839 | 1.000 | 0.120 | 6 | 32544836 | intergenic variant | C/T | snv | 0.11 | 1 | ||
rs35998847 | 1.000 | 0.120 | 6 | 32699220 | intergenic variant | G/A | snv | 0.14 | 1 | ||
rs6054706 | 1.000 | 0.120 | 20 | 149223 | downstream gene variant | C/A;T | snv | 1 | |||
rs7755224 | 1.000 | 0.120 | 6 | 32684540 | regulatory region variant | A/G;T | snv | 1 | |||
rs587776633 | 1.000 | 0.120 | 1 | 85270732 | frameshift variant | -/T | delins | 1 | |||
rs587776634 | 1.000 | 0.120 | 1 | 85267788 | frameshift variant | TGCCTACTTCTAGAACA/- | del | 1 | |||
rs587776635 | 1.000 | 0.120 | 1 | 85267919 | frameshift variant | T/- | delins | 1 | |||
rs587776636 | 1.000 | 0.120 | 1 | 85267930 | frameshift variant | -/A | delins | 1 | |||
rs587776637 | 1.000 | 0.120 | 1 | 85267692 | inframe deletion | TCT/- | delins | 1 |