Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121917834 | 0.790 | 0.080 | 8 | 22163096 | missense variant | T/A;C | snv | 3.6E-05 | 10 | ||
rs121917835 | 0.925 | 0.040 | 8 | 22164010 | missense variant | T/A | snv | 2 | |||
rs1799945 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 226 | |
rs1800730 | 0.649 | 0.480 | 6 | 26090957 | missense variant | A/T | snv | 1.0E-02 | 1.0E-02 | 32 | |
rs2075800 | 0.776 | 0.440 | 6 | 31810169 | missense variant | C/T | snv | 0.32 | 0.25 | 8 | |
rs2227956 | 0.752 | 0.400 | 6 | 31810495 | missense variant | G/A;C;T | snv | 0.87 | 12 | ||
rs1043618 | 0.752 | 0.280 | 6 | 31815730 | 5 prime UTR variant | G/A;C;T | snv | 0.39; 2.0E-05; 4.0E-06 | 10 | ||
rs1061581 | 0.827 | 0.200 | 6 | 31816809 | synonymous variant | G/A | snv | 6 | |||
rs2070600 | 0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 | 82 | |
rs733590 | 0.882 | 0.120 | 6 | 36677426 | intron variant | T/C | snv | 0.41 | 3 | ||
rs2395655 | 0.882 | 0.120 | 6 | 36677919 | 5 prime UTR variant | A/G | snv | 0.43 | 0.49 | 5 | |
rs628977 | 0.851 | 0.160 | 20 | 3669074 | intron variant | T/C | snv | 0.65 | 4 | ||
rs1800470 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 107 | ||
rs17690703 | 0.882 | 0.160 | 17 | 45847931 | intron variant | C/T | snv | 0.18 | 4 | ||
rs73606754 | 1.000 | 0.040 | 19 | 54420809 | splice region variant | C/G;T | snv | 1 | |||
rs8182352 | 0.827 | 0.160 | 17 | 5651667 | intergenic variant | T/C | snv | 0.44 | 5 | ||
rs1555899640 | 1.000 | 0.040 | 20 | 63661935 | frameshift variant | TC/- | delins | 1 | |||
rs869312855 | 1.000 | 0.040 | 20 | 63678184 | splice donor variant | -/T | delins | 1 | |||
rs863225129 | 0.925 | 0.160 | 20 | 63687936 | splice acceptor variant | G/A | snv | 2 | |||
rs748223349 | 1.000 | 0.040 | 20 | 63688001 | missense variant | G/A;C | snv | 1.6E-05 | 1 | ||
rs863225130 | 1.000 | 0.040 | 20 | 63688161 | missense variant | T/G | snv | 1 | |||
rs863225053 | 0.925 | 0.040 | 20 | 63690162 | inframe deletion | ATGTCATCC/- | delins | 2 | |||
rs776744306 | 0.882 | 0.160 | 20 | 63690442 | splice donor variant | G/A;C | snv | 4.5E-06 | 3 | ||
rs398123017 | 0.851 | 0.160 | 20 | 63693211 | stop gained | C/A;G;T | snv | 4.0E-06; 3.2E-05 | 4 | ||
rs146221660 | 0.925 | 0.040 | 20 | 63693248 | missense variant | G/A;T | snv | 2.8E-05; 4.0E-06 | 2 |