Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs200923931 | 1.000 | 0.040 | 4 | 112515310 | missense variant | C/A;G;T | snv | 1.5E-03; 1.5E-05 | 1 | ||
rs16944 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 92 | ||
rs1143623 | 0.677 | 0.440 | 2 | 112838252 | upstream gene variant | C/G | snv | 0.24 | 29 | ||
rs766316400 | 1.000 | 0.040 | 13 | 113087292 | missense variant | G/A | snv | 1.4E-05 | 1 | ||
rs760678 | 0.882 | 0.080 | 6 | 11334421 | intron variant | C/G;T | snv | 3 | |||
rs1800497 | 0.620 | 0.400 | 11 | 113400106 | missense variant | G/A | snv | 0.26 | 0.26 | 56 | |
rs6277 | 0.689 | 0.480 | 11 | 113412737 | synonymous variant | G/A | snv | 0.41 | 0.38 | 36 | |
rs1076560 | 0.776 | 0.120 | 11 | 113412966 | intron variant | C/A | snv | 0.16 | 11 | ||
rs2283265 | 0.776 | 0.160 | 11 | 113414814 | intron variant | C/A | snv | 0.16 | 12 | ||
rs78738012 | 1.000 | 0.040 | 4 | 113439216 | intergenic variant | T/C | snv | 6.6E-02 | 1 | ||
rs755674394 | 1.000 | 0.040 | 3 | 113723499 | missense variant | A/C;G | snv | 4.0E-06 | 1 | ||
rs6280 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 57 | |
rs9614 | 1.000 | 0.040 | 1 | 11650504 | missense variant | T/G | snv | 0.22 | 0.20 | 1 | |
rs670 | 0.763 | 0.360 | 11 | 116837697 | 5 prime UTR variant | C/T | snv | 0.17 | 13 | ||
rs363371 | 0.882 | 0.120 | 10 | 117226885 | TF binding site variant | G/A | snv | 0.19 | 5 | ||
rs363324 | 0.925 | 0.120 | 10 | 117229651 | intergenic variant | G/A | snv | 0.57 | 2 | ||
rs2293054 | 0.925 | 0.080 | 12 | 117263909 | synonymous variant | A/G;T | snv | 0.69; 4.0E-06 | 2 | ||
rs363236 | 1.000 | 0.040 | 10 | 117278860 | 3 prime UTR variant | C/A;T | snv | 0.77 | 1 | ||
rs754831760 | 1.000 | 0.040 | 12 | 117286158 | synonymous variant | G/A | snv | 4.0E-05 | 4.9E-05 | 1 | |
rs375081888 | 0.925 | 0.120 | 12 | 117331048 | missense variant | C/T | snv | 2.4E-05 | 7.0E-06 | 2 | |
rs1927914 | 0.732 | 0.520 | 9 | 117702447 | upstream gene variant | G/A | snv | 0.52 | 14 | ||
rs4986791 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 182 | |
rs11536889 | 0.658 | 0.560 | 9 | 117715853 | 3 prime UTR variant | G/C | snv | 0.11 | 27 | ||
rs7873784 | 0.752 | 0.440 | 9 | 117716658 | 3 prime UTR variant | G/A;C;T | snv | 11 | |||
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 |