Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs16347 | 0.925 | 0.080 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins | 0.70 | 2 | ||
rs1516792 | 0.925 | 0.080 | 2 | 112778356 | intron variant | G/A | snv | 2 | |||
rs7903146 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 93 | |||
rs452204 | 0.807 | 0.200 | 2 | 113131484 | intron variant | G/A | snv | 0.45 | 7 | ||
rs11123169 | 1.000 | 0.080 | 2 | 113209498 | upstream gene variant | C/A;T | snv | 3 | |||
rs814698 | 1.000 | 0.080 | 9 | 113967563 | intron variant | A/T | snv | 0.22 | 2 | ||
rs6280 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 57 | |
rs74614630 | 1.000 | 0.080 | 7 | 11578298 | intron variant | T/C | snv | 9.2E-03 | 1 | ||
rs4730751 | 0.882 | 0.120 | 7 | 116540796 | intron variant | C/A | snv | 0.22 | 4 | ||
rs6997279 | 0.882 | 0.160 | 8 | 116961613 | intron variant | G/T | snv | 0.20 | 3 | ||
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
rs4986791 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 182 | |
rs114425659 | 1.000 | 0.080 | 4 | 117920116 | intergenic variant | G/A | snv | 4.9E-02 | 1 | ||
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs2393778 | 1.000 | 0.080 | 12 | 120702516 | upstream gene variant | G/C;T | snv | 2 | |||
rs2014355 | 0.925 | 0.120 | 12 | 120737721 | non coding transcript exon variant | T/C | snv | 0.22 | 4 | ||
rs1799958 | 0.882 | 0.160 | 12 | 120738280 | missense variant | G/A | snv | 0.26 | 0.21 | 4 | |
rs34708625 | 1.000 | 0.080 | 12 | 120742216 | intron variant | T/C | snv | 0.21 | 2 | ||
rs186208070 | 1.000 | 0.080 | 9 | 12141349 | intron variant | T/A | snv | 6.9E-03 | 1 | ||
rs7652589 | 0.732 | 0.400 | 3 | 122170241 | downstream gene variant | A/G | snv | 0.60 | 13 | ||
rs1801725 | 0.633 | 0.600 | 3 | 122284910 | missense variant | G/T | snv | 0.13 | 0.11 | 39 | |
rs1042636 | 0.672 | 0.360 | 3 | 122284922 | missense variant | A/G | snv | 0.15 | 9.0E-02 | 23 | |
rs756322971 | 0.763 | 0.240 | 3 | 122284955 | missense variant | C/A;G | snv | 9 | |||
rs1801726 | 0.732 | 0.280 | 3 | 122284985 | missense variant | G/C | snv | 0.95 | 0.92 | 13 |