Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs763351020 | 0.633 | 0.560 | 7 | 101132046 | missense variant | C/T | snv | 4.0E-06 | 35 | ||
rs861539 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 104 | |
rs121434592 | 0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 | 54 | ||
rs369999291 | 5 | 112767315 | missense variant | G/A | snv | 2 | |||||
rs1463038513 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 36 | |||
rs1801155 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 42 | |
rs1801166 | 0.732 | 0.200 | 5 | 112839543 | missense variant | G/C | snv | 4.4E-03 | 5.6E-03 | 17 | |
rs876659156 | 5 | 112839714 | missense variant | G/A | snv | 1 | |||||
rs56391007 | 0.752 | 0.200 | 7 | 116771936 | missense variant | C/T | snv | 7.9E-03 | 9.0E-03 | 16 | |
rs786202724 | 0.925 | 0.120 | 7 | 116777403 | missense variant | G/A | snv | 7.0E-06 | 5 | ||
rs1057520030 | 7 | 116777427 | missense variant | A/G;T | snv | 1 | |||||
rs121913671 | 0.882 | 0.160 | 7 | 116783353 | missense variant | G/A;C | snv | 4 | |||
rs121913246 | 0.827 | 0.200 | 7 | 116783360 | missense variant | A/G | snv | 7 | |||
rs1057519824 | 0.807 | 0.120 | 7 | 116783374 | missense variant | T/G | snv | 10 | |||
rs121913245 | 0.925 | 0.120 | 7 | 116783420 | missense variant | T/C | snv | 3 | |||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1057520039 | 0.882 | 0.200 | 19 | 1207169 | stop gained | C/G;T | snv | 4 | |||
rs1383461329 | 1.000 | 0.120 | 12 | 123389469 | missense variant | C/T | snv | 1.4E-05 | 2 | ||
rs1801282 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 131 | |
rs1805192 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 121 | |||
rs3856806 | 0.637 | 0.440 | 3 | 12434058 | synonymous variant | C/T | snv | 0.13 | 0.11 | 41 | |
rs6983267 | 0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 | 62 | ||
rs2736100 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 83 | ||
rs61748181 | 0.827 | 0.120 | 5 | 1294051 | missense variant | C/T | snv | 2.2E-02 | 2.2E-02 | 10 | |
rs752742313 | 0.637 | 0.320 | 3 | 138655502 | missense variant | C/T | snv | 1.2E-05 | 36 |