Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1057519057 | 1.000 | 0.120 | 18 | 53391876 | missense variant | G/A | snv | 2 | |||
rs11893842 | 0.925 | 0.160 | 2 | 219572251 | intron variant | A/G | snv | 0.45 | 2 | ||
rs1569459580 | 1.000 | 0.120 | X | 111196503 | missense variant | G/A | snv | 2 | |||
rs886039811 | 0.807 | 0.320 | 17 | 19357875 | missense variant | A/G | snv | 4.0E-06 | 6 | ||
rs199651452 | 1.000 | 0.120 | 18 | 53339775 | missense variant | A/T | snv | 4.0E-06 | 2 | ||
rs568887534 | 0.807 | 0.240 | 8 | 30183156 | missense variant | A/G | snv | 4.0E-06 | 9 | ||
rs754914260 | 0.925 | 0.120 | 18 | 52923832 | stop gained | C/A;T | snv | 4.0E-06 | 3 | ||
rs1250394819 | 0.807 | 0.240 | 5 | 115616325 | missense variant | C/T | snv | 4.0E-06 | 9 | ||
rs778139192 | 0.776 | 0.360 | 15 | 89629561 | stop gained | G/A;T | snv | 4.1E-06; 7.3E-05 | 14 | ||
rs750610248 | 0.882 | 0.200 | 14 | 99175513 | missense variant | A/C;G | snv | 4.1E-06 | 3 | ||
rs782785654 | 1.000 | 0.120 | X | 155524537 | missense variant | G/A | snv | 5.5E-06 | 1.9E-05 | 2 | |
rs1285675735 | 0.827 | 0.200 | 15 | 45043384 | synonymous variant | C/G;T | snv | 1.1E-05; 1.1E-05 | 6 | ||
rs121912664 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 44 | ||
rs148634289 | 0.827 | 0.200 | 11 | 112088925 | synonymous variant | C/T | snv | 1.6E-05 | 2.1E-05 | 6 | |
rs431905509 | 0.807 | 0.280 | 22 | 19176222 | missense variant | G/A;C | snv | 2.0E-05 | 8 | ||
rs587780072 | 0.882 | 0.240 | 17 | 7674927 | missense variant | G/A;C | snv | 2.8E-05 | 3 | ||
rs750195040 | 0.827 | 0.160 | 9 | 131506164 | inframe deletion | CTT/- | delins | 3.2E-05 | 7.0E-06 | 12 | |
rs199590018 | 0.925 | 0.120 | X | 49193294 | missense variant | G/A | snv | 1.4E-04 | 7.5E-05 | 3 | |
rs775565634 | 1.000 | 0.120 | 18 | 53339808 | missense variant | G/A | snv | 1.5E-04 | 7.7E-05 | 2 | |
rs1695 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 188 |