Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2292832 | 0.605 | 0.640 | 2 | 240456086 | non coding transcript exon variant | T/A;C | snv | 0.59 | 46 | ||
rs1800587 | 0.620 | 0.720 | 2 | 112785383 | upstream gene variant | G/A;C | snv | 0.32 | 43 | ||
rs5742909 | 0.614 | 0.680 | 2 | 203867624 | upstream gene variant | C/T | snv | 6.7E-02 | 40 | ||
rs1126497 | 0.716 | 0.200 | 2 | 47373967 | missense variant | T/C | snv | 0.51 | 0.58 | 14 | |
rs11674595 | 0.763 | 0.200 | 2 | 101994530 | intron variant | T/C | snv | 0.22 | 13 | ||
rs1207011218 | 0.742 | 0.440 | 2 | 203870794 | synonymous variant | C/T | snv | 12 | |||
rs4851527 | 0.790 | 0.160 | 2 | 102005914 | intron variant | A/G | snv | 0.63 | 7 | ||
rs1110839 | 0.807 | 0.120 | 2 | 113236840 | non coding transcript exon variant | G/A;C;T | snv | 6 | |||
rs3218896 | 0.807 | 0.160 | 2 | 102015190 | intron variant | T/C;G | snv | 6 | |||
rs4848320 | 0.807 | 0.120 | 2 | 113253214 | intron variant | C/G;T | snv | 6 | |||
rs1143630 | 0.827 | 0.160 | 2 | 112834078 | intron variant | T/A;G | snv | 5 | |||
rs719250 | 0.827 | 0.200 | 2 | 102007256 | intron variant | C/T | snv | 0.11 | 5 | ||
rs1007541 | 0.882 | 0.080 | 2 | 48981895 | intron variant | C/T | snv | 0.16 | 4 | ||
rs750553272 | 0.851 | 0.080 | 2 | 177230898 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 4 | |
rs997363 | 0.925 | 0.080 | 2 | 227644742 | intron variant | C/T | snv | 0.64 | 2 | ||
rs1052133 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 147 | |
rs104886003 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 71 | ||
rs1799864 | 0.572 | 0.680 | 3 | 46357717 | missense variant | G/A | snv | 0.13 | 0.12 | 68 | |
rs2228001 | 0.570 | 0.480 | 3 | 14145949 | missense variant | G/T | snv | 0.63 | 0.65 | 60 | |
rs121913273 | 0.605 | 0.440 | 3 | 179218294 | missense variant | G/A;C | snv | 44 | |||
rs352140 | 0.630 | 0.680 | 3 | 52222681 | synonymous variant | C/A;G;T | snv | 2.0E-05; 0.49 | 42 | ||
rs187084 | 0.641 | 0.480 | 3 | 52227015 | intron variant | A/G | snv | 0.38 | 36 | ||
rs752742313 | 0.637 | 0.320 | 3 | 138655502 | missense variant | C/T | snv | 1.2E-05 | 36 | ||
rs568408 | 0.649 | 0.600 | 3 | 159995680 | 3 prime UTR variant | G/A | snv | 0.16 | 29 | ||
rs333 | 0.667 | 0.520 | 3 | 46373453 | frameshift variant | GTCAGTATCAATTCTGGAAGAATTTCCAGACA/- | delins | 7.3E-02 | 23 |