Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1800795 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 140 | ||
rs1412125 | 0.724 | 0.360 | 13 | 30467458 | intron variant | C/G;T | snv | 17 | |||
rs4251961 | 0.763 | 0.200 | 2 | 113116890 | intron variant | T/C | snv | 0.29 | 10 | ||
rs2294021 | 0.776 | 0.280 | X | 49249149 | intron variant | T/A;C | snv | 0.52 | 8 | ||
rs7309123 | 0.807 | 0.280 | 12 | 10119994 | intron variant | G/C | snv | 0.42 | 8 | ||
rs4957796 | 0.851 | 0.120 | 5 | 109066439 | intron variant | T/C | snv | 0.16 | 5 | ||
rs5743313 | 0.851 | 0.200 | 4 | 186079213 | intron variant | C/T | snv | 0.19 | 4 | ||
rs113993959 | 0.677 | 0.280 | 7 | 117587778 | stop gained | G/A;T | snv | 8.0E-06; 3.4E-04 | 25 | ||
rs601338 | 0.742 | 0.280 | 19 | 48703417 | stop gained | G/A | snv | 0.38 | 0.45 | 19 | |
rs74597325 | 0.708 | 0.320 | 7 | 117587811 | stop gained | C/G;T | snv | 6.8E-05 | 18 | ||
rs1555580263 | 0.827 | 0.240 | 17 | 63837200 | stop gained | -/AGGTAGAACCTTATCTGCCATCTTC | delins | 6 | |||
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 | |
rs5743708 | 0.525 | 0.800 | 4 | 153705165 | missense variant | G/A | snv | 1.7E-02 | 1.8E-02 | 98 | |
rs76992529 | 0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 | 36 | |
rs213950 | 0.716 | 0.320 | 7 | 117559479 | missense variant | G/A | snv | 0.47 | 0.57 | 16 | |
rs1130866 | 0.827 | 0.160 | 2 | 85666618 | missense variant | G/A;C | snv | 0.50 | 9 | ||
rs1131692245 | 0.925 | 0.160 | 19 | 35844109 | missense variant | C/T | snv | 7 | |||
rs1057520529 | 0.851 | 0.320 | X | 49251440 | missense variant | C/T | snv | 5 | |||
rs17615 | 0.827 | 0.200 | 1 | 207473117 | missense variant | G/A | snv | 0.26 | 0.31 | 5 | |
rs1217371203 | 0.882 | 0.120 | 3 | 122106342 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 4 | ||
rs587782477 | 0.882 | 0.120 | 5 | 112775679 | missense variant | A/T | snv | 4 | |||
rs868435969 | 0.925 | 0.280 | 9 | 35066710 | missense variant | G/A | snv | 3 | |||
rs4308977 | 0.925 | 0.160 | 1 | 207473553 | missense variant | T/A;C | snv | 4.0E-06; 0.27 | 2 | ||
rs17616 | 1.000 | 0.080 | 1 | 207473578 | missense variant | G/A | snv | 0.26 | 0.30 | 1 |