Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs765804978 | 1.000 | 0.080 | 6 | 26091519 | frameshift variant | CC/- | del | 1 | |||
rs773624350 | 1.000 | 0.080 | 6 | 26092887 | synonymous variant | C/T | snv | 4.0E-06 | 1 | ||
rs140080192 | 1.000 | 0.080 | 6 | 26092897 | missense variant | G/A;C | snv | 3.6E-03 | 1 | ||
rs1554154042 | 1.000 | 0.080 | 6 | 26092828 | frameshift variant | A/- | delins | 1 | |||
rs202068193 | 1.000 | 0.080 | 6 | 26092834 | missense variant | G/A | snv | 5.6E-05 | 1.4E-05 | 1 | |
rs749553271 | 1.000 | 0.080 | 6 | 26092960 | stop gained | G/T | snv | 2.1E-05 | 1 | ||
rs1397742363 | 1.000 | 0.080 | 10 | 30451716 | missense variant | A/G | snv | 4.0E-06 | 1 | ||
rs1168921011 | 1.000 | 0.080 | 1 | 203171152 | missense variant | C/A;T | snv | 1 | |||
rs1051249273 | 1.000 | 0.080 | 7 | 100626885 | stop gained | G/A;T | snv | 4.8E-05 | 1 | ||
rs1220336558 | 1.000 | 0.080 | 7 | 100627389 | stop gained | G/A | snv | 5.9E-06 | 1 | ||
rs1426704853 | 1.000 | 0.080 | 7 | 100641009 | frameshift variant | G/- | delins | 1 | |||
rs1562838535 | 1.000 | 0.080 | 7 | 100627598 | frameshift variant | G/- | delins | 1 | |||
rs750609759 | 1.000 | 0.080 | 7 | 100627822 | splice acceptor variant | T/C | snv | 1.6E-05 | 7.0E-06 | 1 | |
rs772104483 | 1.000 | 0.080 | 7 | 100628288 | missense variant | C/A | snv | 8.0E-06 | 1 | ||
rs773050231 | 1.000 | 0.080 | 7 | 100628299 | frameshift variant | C/- | delins | 1.1E-04 | 1 | ||
rs786204108 | 1.000 | 0.080 | 7 | 100626866 | missense variant | C/G;T | snv | 1.3E-05 | 1 | ||
rs765166469 | 1.000 | 0.080 | 19 | 9829976 | missense variant | G/C | snv | 4.0E-06 | 1 | ||
rs777018511 | 0.925 | 0.080 | 6 | 26091451 | frameshift variant | C/- | delins | 1.2E-05 | 7.0E-06 | 2 | |
rs143496559 | 0.925 | 0.080 | 1 | 146018454 | missense variant | C/T | snv | 2.9E-04 | 5.2E-04 | 2 | |
rs781959255 | 0.925 | 0.080 | 1 | 146019321 | missense variant | C/T | snv | 8.1E-06 | 2 | ||
rs80338881 | 0.925 | 0.080 | 7 | 100632099 | stop gained | G/A | snv | 2 | |||
rs2111833 | 1.000 | 0.080 | 22 | 37084757 | synonymous variant | C/G;T | snv | 0.31 | 2 | ||
rs137852310 | 0.882 | 0.120 | X | 55021095 | missense variant | A/G | snv | 3 | |||
rs1374259518 | 0.882 | 0.080 | 19 | 35284995 | missense variant | T/C | snv | 3 | |||
rs387907377 | 0.882 | 0.080 | 2 | 189565504 | missense variant | C/T | snv | 8.0E-06 | 3 |