Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs267607490 | 0.925 | 0.160 | 2 | 219425734 | missense variant | C/T | snv | 6 | |||
rs397516915 | 0.925 | 0.080 | 6 | 7568443 | stop gained | C/T | snv | 4.0E-06 | 6 | ||
rs4641 | 0.851 | 0.120 | 1 | 156137743 | splice region variant | C/T | snv | 0.26 | 0.21 | 6 | |
rs57045855 | 0.882 | 0.040 | 1 | 156134464 | missense variant | A/G;T | snv | 6 | |||
rs59270054 | 0.925 | 0.120 | 1 | 156115162 | missense variant | G/A;C | snv | 6 | |||
rs143978652 | 0.882 | 0.080 | 14 | 23393437 | missense variant | C/A;T | snv | 9.3E-04; 4.0E-06 | 6 | ||
rs202101384 | 0.851 | 0.160 | 1 | 17044818 | missense variant | T/A | snv | 4.4E-05 | 1.4E-05 | 6 | |
rs199476301 | 0.851 | 0.040 | 15 | 63042874 | missense variant | G/A;T | snv | 4.0E-06 | 6 | ||
rs121918082 | 0.827 | 0.280 | 18 | 31595244 | missense variant | G/C | snv | 6 | |||
rs74315293 | 0.851 | 0.200 | 1 | 53213509 | missense variant | C/T | snv | 2.4E-05 | 1.4E-05 | 5 | |
rs56793579 | 0.851 | 0.240 | 1 | 156115102 | missense variant | C/G;T | snv | 5 | |||
rs397515905 | 0.851 | 0.080 | 11 | 47342719 | missense variant | G/A;C;T | snv | 4.0E-06; 8.0E-06 | 5 | ||
rs397516059 | 0.851 | 0.080 | 11 | 47349876 | frameshift variant | -/A | delins | 8.2E-06 | 5 | ||
rs727503166 | 0.851 | 0.080 | 11 | 47332110 | frameshift variant | T/- | del | 5 | |||
rs727503204 | 0.882 | 0.080 | 11 | 47343020 | splice donor variant | C/G;T | snv | 5 | |||
rs199474703 | 0.851 | 0.120 | 3 | 46860702 | missense variant | C/T | snv | 8.0E-06 | 5 | ||
rs137854607 | 0.882 | 0.120 | 3 | 38554309 | missense variant | C/G;T | snv | 5 | |||
rs786205436 | 0.882 | 0.080 | 11 | 112088972 | missense variant | A/G;T | snv | 5 | |||
rs104893823 | 0.882 | 0.040 | 3 | 52451285 | missense variant | C/T | snv | 5 | |||
rs397516347 | 0.851 | 0.120 | 19 | 55154157 | missense variant | C/T | snv | 4.2E-05 | 5 | ||
rs397516357 | 0.851 | 0.120 | 19 | 55151910 | missense variant | C/T | snv | 7.0E-06 | 5 | ||
rs397516484 | 0.851 | 0.080 | 1 | 201359244 | missense variant | C/G;T | snv | 1.2E-05 | 5 | ||
rs863225119 | 0.882 | 0.080 | 1 | 201359632 | missense variant | T/A | snv | 5 | |||
rs397517689 | 0.882 | 0.160 | 2 | 178574530 | stop gained | G/A | snv | 4.0E-06 | 5 | ||
rs869320740 | 0.851 | 0.200 | 2 | 178546102 | missense variant | A/G | snv | 4.1E-06 | 5 |