Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs34637584 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 78 | |
rs33939927 | 0.708 | 0.120 | 12 | 40310434 | missense variant | C/A;G;T | snv | 4.0E-06; 1.2E-05 | 24 | ||
rs2066842 | 0.763 | 0.200 | 16 | 50710713 | missense variant | C/A;T | snv | 4.0E-06; 0.19 | 15 | ||
rs398122403 | 0.807 | 0.080 | 21 | 32695106 | missense variant | C/T | snv | 1.2E-05 | 11 | ||
rs34424986 | 0.752 | 0.200 | 6 | 161785820 | missense variant | G/A;T | snv | 1.9E-03; 8.0E-06 | 10 | ||
rs74315355 | 0.790 | 0.080 | 1 | 20644639 | missense variant | G/A | snv | 7 | |||
rs762472005 | 0.851 | 0.040 | 3 | 45722873 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 5 | |
rs137853054 | 0.882 | 0.160 | 6 | 161973317 | missense variant | G/A;C;T | snv | 3.7E-04; 4.0E-06; 8.0E-06 | 4 | ||
rs368134308 | 0.882 | 0.040 | 6 | 162443356 | missense variant | C/A;G;T | snv | 3.2E-05; 2.6E-04 | 4 | ||
rs1060499619 | 0.851 | 0.040 | 21 | 32681590 | missense variant | C/G | snv | 4 | |||
rs137853058 | 0.882 | 0.120 | 6 | 161973401 | missense variant | C/T | snv | 1.2E-05 | 3 | ||
rs150562946 | 0.882 | 0.040 | 6 | 161785877 | missense variant | G/A | snv | 4.2E-04 | 4.5E-04 | 3 | |
rs751037529 | 0.925 | 0.040 | 6 | 161785793 | missense variant | C/G | snv | 1.2E-05 | 3 | ||
rs147757966 | 0.925 | 0.040 | 6 | 162443383 | missense variant | C/A;G;T | snv | 4.0E-06; 8.8E-05 | 2 | ||
rs397518439 | 1.000 | 0.040 | 6 | 162727661 | splice donor variant | C/A;G | snv | 1 | |||
rs1554391082 | 1.000 | 0.040 | 7 | 131556270 | frameshift variant | -/GGCGACGG | delins | 1 | |||
rs137853055 | 1.000 | 0.040 | 6 | 161569357 | stop gained | G/A | snv | 1 | |||
rs137853056 | 1.000 | 0.040 | 6 | 161350139 | stop gained | C/T | snv | 1 | |||
rs137853057 | 1.000 | 0.040 | 6 | 162201182 | missense variant | T/A | snv | 1 | |||
rs137853059 | 1.000 | 0.040 | 6 | 162443314 | missense variant | A/T | snv | 1.6E-05 | 2.1E-05 | 1 | |
rs137853060 | 1.000 | 0.040 | 6 | 161973403 | missense variant | T/A | snv | 2.0E-05 | 1 | ||
rs148990138 | 1.000 | 0.040 | 6 | 162443371 | missense variant | G/A | snv | 1.9E-04 | 2.4E-04 | 1 | |
rs149953814 | 1.000 | 0.040 | 6 | 161350187 | missense variant | G/A | snv | 1.6E-03 | 2.2E-03 | 1 | |
rs1562430103 | 1.000 | 0.040 | 6 | 161973301 | splice donor variant | C/T | snv | 1 | |||
rs1562485799 | 1.000 | 0.040 | 6 | 162054149 | stop gained | A/C | snv | 1 |