Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs28940892 | 0.882 | 0.200 | 18 | 13884758 | missense variant | T/C | snv | 3 | |||
rs137853265 | 0.925 | 0.200 | X | 54467901 | missense variant | C/T | snv | 7.9E-06 | 9.5E-06 | 2 | |
rs137853266 | 0.925 | 0.160 | X | 54467796 | missense variant | C/A;T | snv | 2 | |||
rs137853267 | 0.925 | 0.200 | X | 54465797 | missense variant | T/C | snv | 2 | |||
rs756586058 | 1.000 | 0.160 | X | 54470715 | frameshift variant | G/-;GG | delins | 2 | |||
rs758709668 | 0.925 | 0.200 | 18 | 13885082 | missense variant | C/A;T | snv | 4.0E-06; 3.2E-05 | 2 | ||
rs768093045 | 0.925 | 0.200 | 18 | 13885212 | missense variant | C/G;T | snv | 1.6E-05 | 2 | ||
rs886039786 | 0.925 | 0.160 | 5 | 43619076 | missense variant | T/C | snv | 2 | |||
rs768299768 | 0.925 | 0.200 | 2 | 25161505 | missense variant | C/A;T | snv | 9.2E-06 | 2 | ||
rs104894090 | 0.925 | 0.280 | 8 | 38146051 | missense variant | G/A | snv | 4.4E-05 | 2.8E-05 | 2 | |
rs137853264 | 1.000 | 0.160 | X | 54465522 | missense variant | C/T | snv | 1 | |||
rs1557189455 | 1.000 | 0.160 | X | 54467883 | missense variant | G/A | snv | 1 | |||
rs1557189608 | 1.000 | 0.160 | X | 54470224 | frameshift variant | -/A | delins | 1 | |||
rs1557191567 | 1.000 | 0.160 | X | 54495155 | frameshift variant | -/A | delins | 1 | |||
rs1569541255 | 1.000 | 0.160 | X | 54470172 | frameshift variant | -/G | delins | 1 | |||
rs28935497 | 1.000 | 0.160 | X | 54456233 | missense variant | C/T | snv | 1 | |||
rs387906718 | 1.000 | 0.160 | X | 54455497 | stop gained | G/A | snv | 1 | |||
rs1269514277 | 1.000 | 0.160 | X | 54446267 | stop gained | G/A | snv | 1 | |||
rs775777341 | 1.000 | 0.160 | 18 | 13884822 | missense variant | C/G;T | snv | 4.0E-06; 8.0E-06 | 1 | ||
rs1265342534 | 1.000 | 0.160 | 2 | 25161191 | missense variant | G/C | snv | 4.0E-06 | 1 | ||
rs45463492 | 1.000 | 0.160 | 2 | 25161451 | missense variant | C/A;T | snv | 3.0E-05; 3.0E-05 | 1 | ||
rs775159616 | 1.000 | 0.160 | 2 | 25161311 | missense variant | C/T | snv | 4.3E-06; 3.0E-05 | 7.0E-06 | 1 | |
rs1354286349 | 1.000 | 0.160 | 8 | 38145969 | missense variant | A/G | snv | 4.0E-06 | 1 | ||
rs752311616 | 1.000 | 0.160 | 8 | 38146039 | missense variant | G/A | snv | 4.0E-06 | 1 |