Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs12188300 | 0.807 | 0.120 | 5 | 159402519 | intron variant | A/G;T | snv | 2 | |||
rs17085007 | 0.827 | 0.120 | 13 | 26957130 | regulatory region variant | T/C | snv | 0.16 | 2 | ||
rs17728338 | 0.851 | 0.160 | 5 | 151098757 | downstream gene variant | G/A | snv | 7.1E-02 | 2 | ||
rs2082412 | 0.925 | 0.120 | 5 | 159290781 | downstream gene variant | G/A | snv | 0.27 | 2 | ||
rs2111485 | 0.724 | 0.280 | 2 | 162254026 | regulatory region variant | A/G | snv | 0.46 | 2 | ||
rs4085613 | 0.827 | 0.160 | 1 | 152577542 | downstream gene variant | T/G | snv | 0.59 | 2 | ||
rs71624119 | 0.776 | 0.200 | 5 | 56144903 | intron variant | G/A | snv | 0.17 | 2 | ||
rs10516487 | 0.752 | 0.360 | 4 | 101829919 | missense variant | G/A;T | snv | 0.26; 8.0E-06 | 2 | ||
rs130067 | 0.851 | 0.200 | 6 | 31150734 | missense variant | T/G | snv | 0.23 | 0.21 | 2 | |
rs10782001 | 1.000 | 0.040 | 16 | 30931304 | intron variant | G/A | snv | 0.53 | 2 | ||
rs11168249 | 0.807 | 0.120 | 12 | 47814585 | intron variant | T/C | snv | 0.50 | 2 | ||
rs3024493 | 0.776 | 0.280 | 1 | 206770623 | intron variant | C/A;T | snv | 0.11 | 2 | ||
rs10889677 | 0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 | 2 | ||
rs9988642 | 0.882 | 0.080 | 1 | 67260421 | downstream gene variant | T/C | snv | 0.13 | 2 | ||
rs7517847 | 0.689 | 0.600 | 1 | 67215986 | intron variant | T/G | snv | 0.37 | 2 | ||
rs2104286 | 0.662 | 0.440 | 10 | 6057082 | intron variant | T/C | snv | 0.18 | 2 | ||
rs941823 | 0.827 | 0.120 | 13 | 40439840 | intron variant | T/C | snv | 0.77 | 2 | ||
rs492602 | 0.925 | 0.120 | 19 | 48703160 | synonymous variant | A/G | snv | 0.38 | 0.45 | 2 | |
rs2451258 | 0.807 | 0.160 | 6 | 159085568 | intron variant | C/T | snv | 0.75 | 2 | ||
rs2546890 | 0.882 | 0.200 | 5 | 159332892 | non coding transcript exon variant | A/G | snv | 0.52 | 2 | ||
rs5743293 | 0.807 | 0.200 | 16 | 50729868 | frameshift variant | C/-;CC | delins | 2 | |||
rs7608910 | 0.827 | 0.120 | 2 | 60977721 | intron variant | A/G | snv | 0.37 | 2 | ||
rs4780355 | 0.882 | 0.120 | 16 | 11254001 | intron variant | T/C;G | snv | 2 | |||
rs495337 | 0.925 | 0.120 | 20 | 49905793 | synonymous variant | G/A | snv | 0.44 | 0.35 | 2 | |
rs2066808 | 0.807 | 0.280 | 12 | 56344189 | intron variant | A/G | snv | 0.21 | 2 |