Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs4129148 | 1.000 | 0.040 | Y | 1029445 | intergenic variant | C/G;T | snv | 1 | |||
rs1557136818 | 0.925 | 0.120 | X | 154031259 | missense variant | C/T | snv | 4 | |||
rs2269368 | 0.925 | 0.120 | X | 153924366 | intron variant | C/G;T | snv | 2 | |||
rs12009217 | 1.000 | 0.040 | X | 6002841 | intron variant | A/G | snv | 0.28 | 1 | ||
rs12845396 | 1.000 | 0.040 | X | 6111492 | intron variant | A/G;T | snv | 1 | |||
rs1378559 | 1.000 | 0.040 | X | 21362148 | intron variant | T/C | snv | 0.10 | 1 | ||
rs2269372 | 1.000 | 0.040 | X | 153942092 | intron variant | A/G | snv | 0.38 | 1 | ||
rs2734647 | 1.000 | 0.040 | X | 154026729 | 3 prime UTR variant | T/C | snv | 1 | |||
rs5936660 | 1.000 | 0.040 | X | 69158094 | downstream gene variant | A/G | snv | 1 | |||
rs5937157 | 1.000 | 0.040 | X | 69157283 | downstream gene variant | T/G | snv | 0.29 | 1 | ||
rs62606711 | 1.000 | 0.040 | X | 69157361 | downstream gene variant | G/A | snv | 1.7E-05 | 1 | ||
rs133047 | 1.000 | 0.040 | 22 | 40631815 | intron variant | T/C | snv | 0.93 | 3 | ||
rs74315457 | 0.851 | 0.160 | 22 | 50626976 | missense variant | A/C | snv | 2.3E-04 | 2.8E-04 | 3 | |
rs9607782 | 1.000 | 0.040 | 22 | 41191552 | intron variant | T/A | snv | 0.23 | 3 | ||
rs9616914 | 1.000 | 0.040 | 22 | 50678709 | intron variant | G/A | snv | 0.35 | 0.36 | 3 | |
rs1065852 | 0.695 | 0.360 | 22 | 42130692 | missense variant | G/A | snv | 0.21 | 0.19 | 2 | |
rs132570 | 1.000 | 0.040 | 22 | 39580123 | intron variant | C/A | snv | 0.45 | 2 | ||
rs1800754 | 1.000 | 0.040 | 22 | 42141587 | stop gained | G/A;T | snv | 2 | |||
rs2238731 | 0.882 | 0.120 | 22 | 18918464 | missense variant | C/T | snv | 3.8E-02 | 2 | ||
rs2870983 | 0.882 | 0.120 | 22 | 18918329 | missense variant | C/T | snv | 4.9E-02; 4.0E-06 | 5.5E-02 | 2 | |
rs2904551 | 0.776 | 0.160 | 22 | 18918421 | missense variant | A/G | snv | 5.2E-03 | 2.8E-03 | 2 | |
rs2904552 | 0.925 | 0.120 | 22 | 18918451 | missense variant | C/T | snv | 7.2E-02 | 2 | ||
rs3020736 | 1.000 | 0.040 | 22 | 42141117 | intron variant | G/A;C | snv | 2 | |||
rs3970559 | 0.851 | 0.120 | 22 | 18918386 | missense variant | G/A | snv | 1.1E-02 | 2 | ||
rs450046 | 0.851 | 0.280 | 22 | 18913491 | missense variant | C/T | snv | 0.93 | 2.8E-03 | 2 |