Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs121913250 | 0.683 | 0.440 | 1 | 114716127 | missense variant | C/A;G;T | snv | 25 | |||
rs6442260 | 0.925 | 0.160 | 3 | 11549277 | intron variant | G/A | snv | 0.42 | 2 | ||
rs1049334 | 0.851 | 0.280 | 7 | 116560326 | 3 prime UTR variant | G/A;T | snv | 6 | |||
rs11762213 | 0.925 | 0.120 | 7 | 116699228 | synonymous variant | G/A | snv | 3.3E-02 | 3.3E-02 | 2 | |
rs34589476 | 0.827 | 0.160 | 7 | 116771869 | missense variant | C/T | snv | 2.9E-03 | 3.2E-03 | 7 | |
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1801131 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 93 | |
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1801133 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 174 | |
rs3923594 | 1.000 | 0.120 | 11 | 119317205 | intron variant | C/A;T | snv | 7.1E-06 | 2 | ||
rs3206824 | 0.827 | 0.160 | 11 | 11964514 | missense variant | T/C | snv | 0.78 | 0.78 | 6 | |
rs7396187 | 0.925 | 0.120 | 11 | 11967604 | intron variant | C/G | snv | 0.84 | 2 | ||
rs2291599 | 0.925 | 0.120 | 11 | 11968352 | intron variant | T/C | snv | 0.83 | 0.85 | 2 | |
rs1259293 | 0.925 | 0.120 | 3 | 120421014 | intron variant | T/C | snv | 0.59 | 2 | ||
rs137853247 | 0.851 | 0.200 | 12 | 120978860 | missense variant | G/A;C | snv | 7.7E-04; 4.0E-06 | 5 | ||
rs1555212014 | 0.807 | 0.280 | 12 | 120994264 | missense variant | C/T | snv | 6 | |||
rs587776825 | 0.827 | 0.280 | 12 | 120994315 | frameshift variant | C/-;CC;CCC | delins | 5 | |||
rs754729248 | 0.807 | 0.280 | 12 | 120996568 | missense variant | C/A;G;T | snv | 2.4E-05; 1.9E-04; 3.6E-05 | 6 | ||
rs137853236 | 0.807 | 0.280 | 12 | 120997504 | missense variant | C/T | snv | 1.2E-05 | 6 | ||
rs2981582 | 0.695 | 0.360 | 10 | 121592803 | intron variant | A/G | snv | 0.58 | 21 | ||
rs16917496 | 0.689 | 0.360 | 12 | 123409283 | 3 prime UTR variant | C/G;T | snv | 21 | |||
rs1801282 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 131 | |
rs1805192 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 121 | |||
rs4765623 | 0.925 | 0.120 | 12 | 124836304 | intron variant | C/T | snv | 0.38 | 2 | ||
rs10069690 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 53 |