Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2086452 | 1.000 | 0.040 | 15 | 100188458 | intron variant | G/A;C | snv | 1 | |||
rs137853008 | 1.000 | 0.040 | 22 | 28734673 | missense variant | C/A | snv | 1 | |||
rs55933544 | 1.000 | 0.040 | 9 | 6534080 | missense variant | C/T | snv | 0.21 | 1 | ||
rs12146774 | 1.000 | 0.040 | 12 | 119235698 | intron variant | C/T | snv | 0.15 | 1 | ||
rs1332788424 | 1.000 | 0.040 | 6 | 33009477 | synonymous variant | C/A;T | snv | 4.3E-06 | 2 | ||
rs863223301 | 0.925 | 0.080 | 17 | 7675130 | frameshift variant | -/CCATGGC | delins | 2 | |||
rs10208273 | 0.882 | 0.040 | 2 | 6383862 | intergenic variant | A/G | snv | 0.30 | 3 | ||
rs17111750 | 0.882 | 0.040 | 14 | 20442249 | downstream gene variant | C/T | snv | 0.30 | 3 | ||
rs231755 | 0.882 | 0.040 | 2 | 203888846 | regulatory region variant | G/C | snv | 0.11 | 3 | ||
rs7591996 | 0.882 | 0.040 | 2 | 6321289 | intron variant | A/C | snv | 0.57 | 3 | ||
rs8103992 | 0.882 | 0.040 | 19 | 19554834 | regulatory region variant | A/C;T | snv | 3 | |||
rs4148416 | 0.882 | 0.040 | 17 | 50676062 | synonymous variant | C/T | snv | 8.7E-02 | 0.10 | 3 | |
rs1223868338 | 0.882 | 0.040 | 10 | 88990884 | missense variant | G/C | snv | 7.0E-06 | 3 | ||
rs17206779 | 0.882 | 0.040 | 5 | 65151950 | splice region variant | C/G;T | snv | 0.48 | 3 | ||
rs3787547 | 0.882 | 0.040 | 20 | 54067899 | intron variant | G/A | snv | 0.36 | 3 | ||
rs235764 | 0.882 | 0.040 | 20 | 6773599 | intron variant | G/A | snv | 0.31 | 3 | ||
rs17883862 | 0.882 | 0.080 | 22 | 28734468 | missense variant | G/A;C;T | snv | 9.1E-04; 1.2E-05 | 3 | ||
rs1061970 | 0.882 | 0.040 | 17 | 50184491 | 3 prime UTR variant | A/G | snv | 0.13 | 3 | ||
rs2075559 | 0.882 | 0.040 | 17 | 50189930 | intron variant | G/A;C;T | snv | 0.52; 4.0E-06 | 3 | ||
rs758300152 | 0.882 | 0.040 | 14 | 44504889 | missense variant | T/C;G | snv | 1.6E-05; 4.0E-06 | 3 | ||
rs998074 | 0.882 | 0.040 | 6 | 160047351 | intron variant | T/A;C | snv | 0.53 | 3 | ||
rs998075 | 0.882 | 0.040 | 6 | 160047246 | synonymous variant | A/G | snv | 0.53 | 0.54 | 3 | |
rs779591039 | 0.882 | 0.040 | 20 | 45253712 | missense variant | G/A | snv | 3 | |||
rs11177386 | 0.882 | 0.040 | 12 | 68820362 | missense variant | G/A | snv | 3 | |||
rs199812774 | 0.882 | 0.040 | 12 | 68839357 | synonymous variant | T/C | snv | 1.8E-04 | 2.4E-04 | 3 |