Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs4733601 | 1.000 | 0.120 | 8 | 128257220 | TF binding site variant | A/G | snv | 0.41 | 1 | ||
rs6773363 | 1.000 | 0.120 | 3 | 27752141 | intergenic variant | T/A;C | snv | 1 | |||
rs79464052 | 1.000 | 0.120 | 5 | 141655607 | intron variant | G/C | snv | 7.1E-02 | 7.8E-02 | 1 | |
rs2523607 | 1.000 | 0.120 | 6 | 31355013 | non coding transcript exon variant | T/A | snv | 1 | |||
rs201345298 | 1.000 | 0.120 | 12 | 6955413 | missense variant | C/A | snv | 3.8E-04 | 4.0E-04 | 1 | |
rs2272990 | 1.000 | 0.120 | 6 | 3076907 | missense variant | T/C;G | snv | 0.91 | 1 | ||
rs7765004 | 0.925 | 0.120 | 6 | 113750518 | regulatory region variant | A/C | snv | 0.32 | 2 | ||
rs79480871 | 0.925 | 0.160 | 2 | 24471603 | intergenic variant | C/T | snv | 9.3E-02 | 2 | ||
rs1390458638 | 0.925 | 0.120 | 2 | 219216441 | missense variant | G/A | snv | 4.0E-06 | 2 | ||
rs1312391542 | 0.925 | 0.120 | 6 | 106104897 | missense variant | G/A;T | snv | 2 | |||
rs3218674 | 1.000 | 0.120 | 11 | 108244860 | synonymous variant | C/G;T | snv | 1.1E-02 | 1.1E-02 | 2 | |
rs1880030 | 0.925 | 0.120 | 12 | 122046634 | intron variant | G/A | snv | 0.39 | 2 | ||
rs3813729 | 0.925 | 0.120 | 12 | 7089608 | missense variant | C/G;T | snv | 2 | |||
rs1443292790 | 1.000 | 0.120 | 17 | 63929438 | missense variant | T/C | snv | 2 | |||
rs2681416 | 0.925 | 0.120 | 3 | 122098766 | intron variant | G/A | snv | 0.26 | 2 | ||
rs1426981647 | 0.925 | 0.200 | 22 | 28710038 | missense variant | T/C | snv | 4.0E-06 | 2 | ||
rs3025684 | 1.000 | 0.120 | 16 | 3745362 | splice region variant | G/A | snv | 7.7E-02 | 0.15 | 2 | |
rs777500092 | 1.000 | 0.120 | 2 | 25246231 | missense variant | G/A | snv | 8.0E-06 | 2 | ||
rs758653954 | 0.925 | 0.120 | 14 | 23357350 | frameshift variant | -/C | delins | 4.0E-06; 8.0E-06 | 2 | ||
rs931920092 | 0.925 | 0.120 | 14 | 23357350 | missense variant | G/A;C | snv | 2 | |||
rs1227230819 | 0.925 | 0.120 | 5 | 37815877 | missense variant | T/C | snv | 4.0E-06 | 2 | ||
rs7712513 | 0.925 | 0.120 | 5 | 122582513 | intergenic variant | G/T | snv | 0.71 | 2 | ||
rs6773854 | 1.000 | 0.120 | 3 | 187931631 | downstream gene variant | T/C | snv | 0.23 | 2 | ||
rs2070770 | 0.925 | 0.120 | 11 | 60463058 | synonymous variant | C/T | snv | 7.1E-02 | 5.4E-02 | 2 | |
rs10462020 | 0.925 | 0.160 | 1 | 7820623 | missense variant | T/G | snv | 0.17 | 0.16 | 2 |