Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs137852803 | 1.000 | 2 | 174750143 | missense variant | C/A;G;T | snv | 2.8E-05; 4.0E-06; 8.0E-06 | 2 | |||
rs137852832 | 0.716 | 0.280 | 12 | 88077263 | stop gained | C/A | snv | 9.5E-05 | 6.3E-05 | 17 | |
rs137852863 | 0.882 | 0.120 | 5 | 61073136 | stop gained | C/T | snv | 4.0E-05 | 3.5E-05 | 5 | |
rs137853043 | 1.000 | 0.240 | 12 | 49185576 | missense variant | G/A;C | snv | 2 | |||
rs137853049 | 1.000 | 0.240 | 12 | 49185102 | missense variant | G/A | snv | 2 | |||
rs137853105 | 0.882 | 0.160 | 17 | 58206479 | missense variant | A/C | snv | 5.6E-05 | 2.8E-05 | 4 | |
rs137853252 | 1.000 | 0.040 | X | 19358920 | missense variant | C/T | snv | 2 | |||
rs137854562 | 0.925 | 0.120 | 17 | 31235623 | stop gained | C/T | snv | 4 | |||
rs1382415023 | 1.000 | 21 | 33554945 | frameshift variant | GAAA/- | delins | 3 | ||||
rs1382444181 | 1.000 | 17 | 76733070 | frameshift variant | G/- | delins | 8.3E-06 | 7.0E-06 | 2 | ||
rs138632121 | 0.776 | 0.400 | 16 | 3026140 | missense variant | T/A | snv | 1.7E-04 | 2.0E-04 | 13 | |
rs139751598 | 0.851 | 0.240 | 17 | 81934931 | missense variant | C/T | snv | 2.4E-05 | 4.2E-05 | 13 | |
rs140119177 | 0.851 | 0.160 | 9 | 93447639 | missense variant | G/A | snv | 6.8E-05 | 2.2E-04 | 7 | |
rs141138948 | 0.807 | 0.120 | 9 | 37783993 | missense variant | T/C;G | snv | 4.1E-04 | 9 | ||
rs141760116 | 0.925 | 0.080 | 5 | 70951939 | splice acceptor variant | A/C;G;T | snv | 4.0E-06 | 3 | ||
rs141949212 | 0.882 | 0.160 | 15 | 27845052 | missense variant | C/T | snv | 4.0E-05 | 2.0E-04 | 5 | |
rs141970897 | 0.925 | 0.200 | 9 | 129104269 | missense variant | T/C | snv | 1.1E-03 | 7.8E-04 | 8 | |
rs142209254 | 1 | 113896423 | stop gained | T/A;G | snv | 4.0E-06; 4.0E-06 | 1 | ||||
rs142684762 | 1.000 | 16 | 57659478 | missense variant | A/G | snv | 3 | ||||
rs1426926688 | 1.000 | 9 | 131038920 | frameshift variant | AGCACAG/- | del | 8.0E-06 | 1.4E-05 | 2 | ||
rs1429181351 | 0.925 | 0.160 | 12 | 101764957 | frameshift variant | TA/- | del | 4.0E-06 | 4 | ||
rs1431337923 | 10 | 117255595 | splice region variant | AG/- | delins | 4.0E-06 | 1 | ||||
rs143657539 | 1 | 40092054 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 | 2 | |||
rs1448259271 | 0.790 | 0.240 | 14 | 77027279 | stop gained | C/A;T | snv | 23 | |||
rs1462161137 | 1.000 | 17 | 76733042 | frameshift variant | -/A | delins | 7.0E-06 | 3 |