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 | |
rs104893877 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 59 | |||
rs104893878 | 0.732 | 0.160 | 4 | 89835580 | missense variant | C/G | snv | 21 | |||
rs34778348 | 0.742 | 0.120 | 12 | 40363526 | missense variant | G/A | snv | 1.7E-03 | 5.8E-04 | 15 | |
rs104893875 | 0.742 | 0.120 | 4 | 89828170 | missense variant | C/T | snv | 4.0E-06 | 13 | ||
rs5030732 | 0.790 | 0.160 | 4 | 41257616 | missense variant | C/A | snv | 0.24 | 0.16 | 10 | |
rs33949390 | 0.776 | 0.160 | 12 | 40320043 | missense variant | G/A;C;T | snv | 1.6E-04; 1.9E-03; 8.0E-06 | 9 | ||
rs35870237 | 0.763 | 0.120 | 12 | 40340404 | missense variant | T/C | snv | 9 | |||
rs188286943 | 0.776 | 0.160 | 16 | 46662452 | missense variant | C/T | snv | 9 | |||
rs142444896 | 0.807 | 0.120 | 7 | 56106409 | missense variant | G/A | snv | 9.3E-03 | 7.5E-03 | 6 | |
rs1224426272 | 0.925 | 0.040 | 12 | 119869138 | missense variant | C/T | snv | 6 | |||
rs387907571 | 0.827 | 0.080 | 3 | 132477995 | missense variant | A/G | snv | 4.2E-06 | 3.5E-05 | 6 | |
rs763222239 | 0.827 | 0.040 | 3 | 184322862 | missense variant | G/A | snv | 4.0E-06 | 5 | ||
rs864309650 | 0.851 | 0.040 | 7 | 56104344 | missense variant | G/A | snv | 4 | |||
rs356165 | 0.882 | 0.080 | 4 | 89725735 | 3 prime UTR variant | G/A | snv | 0.54 | 3 | ||
rs983198652 | 0.925 | 0.040 | 7 | 6015170 | missense variant | G/A | snv | 2 | |||
rs281865051 | 1.000 | 0.040 | 12 | 40319998 | missense variant | T/C | snv | 2 | |||
rs281865054 | 0.925 | 0.040 | 12 | 40323270 | stop gained | G/A;T | snv | 4.0E-06 | 2 | ||
rs10043 | 1.000 | 0.040 | 7 | 56106422 | 5 prime UTR variant | A/C;T | snv | 0.80; 4.0E-06 | 1 | ||
rs200274374 | 1.000 | 0.040 | 2 | 176093519 | missense variant | T/C | snv | 4.0E-06 | 1 | ||
rs1345627905 | 1.000 | 0.040 | 11 | 111913790 | synonymous variant | G/A | snv | 7.0E-06 | 1 | ||
rs112794616 | 1.000 | 0.040 | 12 | 40240543 | missense variant | C/A;T | snv | 4.0E-06; 1.7E-04 | 1 | ||
rs79996249 | 1.000 | 0.040 | 12 | 40263875 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 | 1 | |
rs1418203843 | 1.000 | 0.040 | 4 | 89822353 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 1 | |
rs11448856 | 1.000 | 0.040 | 17 | 28357365 | frameshift variant | C/-;CC | delins | 6.2E-06; 1.00 | 1 |