Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs16944 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 92 | ||
rs1143634 | 0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 | 52 | |
rs1143627 | 0.605 | 0.760 | 2 | 112836810 | 5 prime UTR variant | G/A | snv | 0.56 | 47 | ||
rs1143623 | 0.677 | 0.440 | 2 | 112838252 | upstream gene variant | C/G | snv | 0.24 | 29 | ||
rs419598 | 0.742 | 0.280 | 2 | 113129630 | synonymous variant | T/C | snv | 0.26 | 0.21 | 13 | |
rs3811047 | 0.807 | 0.400 | 2 | 112913833 | missense variant | A/G | snv | 0.71 | 0.60 | 10 | |
rs75885714 | 3 | 16901018 | intron variant | A/C | snv | 4.6E-02 | 7 | ||||
rs2250417 | 1.000 | 0.080 | 11 | 112214593 | intron variant | T/C | snv | 0.44 | 5 | ||
rs447713 | 0.851 | 0.160 | 2 | 113130095 | non coding transcript exon variant | A/G | snv | 0.21 | 5 | ||
rs3811046 | 0.851 | 0.160 | 2 | 112913801 | missense variant | G/A;T | snv | 4.0E-06; 0.71 | 5 | ||
rs7588285 | 2 | 3600596 | intron variant | C/G;T | snv | 3 | |||||
rs1545747 | 15 | 66164979 | intron variant | G/T | snv | 0.97 | 3 | ||||
rs12621220 | 1.000 | 0.080 | 2 | 112840678 | non coding transcript exon variant | C/T | snv | 0.24 | 2 | ||
rs4241122 | 1.000 | 0.120 | 2 | 112921279 | downstream gene variant | G/A | snv | 0.58 | 2 | ||
rs4849133 | 2 | 112923864 | downstream gene variant | C/A;T | snv | 2 | |||||
rs7577696 | 2 | 32053713 | intergenic variant | A/G | snv | 0.42 | 2 | ||||
rs1794068 | 1.000 | 0.040 | 2 | 113128926 | intron variant | G/A | snv | 0.21 | 2 | ||
rs454078 | 1.000 | 0.120 | 2 | 113131216 | intron variant | A/T | snv | 0.21 | 2 | ||
rs2723175 | 1.000 | 0.080 | 2 | 112910176 | upstream gene variant | G/A | snv | 0.11 | 2 | ||
rs2723183 | 1.000 | 0.040 | 2 | 112917144 | missense variant | A/G | snv | 6.8E-02 | 1.0E-01 | 2 | |
rs2723187 | 1.000 | 0.040 | 2 | 112917692 | missense variant | C/T | snv | 6.8E-02 | 1.0E-01 | 2 | |
rs6917603 | 6 | 30049294 | intron variant | T/C | snv | 0.15 | 2 | ||||
rs10169916 | 2 | 112846151 | downstream gene variant | T/A;G | snv | 1 | |||||
rs10199469 | 2 | 112921027 | downstream gene variant | A/G | snv | 9.9E-02 | 1 | ||||
rs11674397 | 2 | 112873948 | intergenic variant | C/T | snv | 0.15 | 1 |