Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs12475512 | 2 | 231433365 | downstream gene variant | G/A | snv | 0.47 | 2 | ||||
rs74566133 | 8 | 133766099 | regulatory region variant | C/T | snv | 2.6E-02 | 2 | ||||
rs4148087 | 1.000 | 0.040 | 21 | 42202157 | intron variant | G/A;T | snv | 3 | |||
rs1800497 | 0.620 | 0.400 | 11 | 113400106 | missense variant | G/A | snv | 0.26 | 0.26 | 56 | |
rs7322916 | 13 | 25433839 | intron variant | G/A;C | snv | 2 | |||||
rs759834365 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 237 | ||
rs6265 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 272 | |
rs746682028 | 0.645 | 0.480 | 11 | 27658414 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 36 | ||
rs554073050 | 0.925 | 0.040 | 3 | 42263460 | synonymous variant | G/A | snv | 1.2E-05 | 7.0E-06 | 3 | |
rs35761398 | 0.701 | 0.520 | 1 | 23875429 | missense variant | TT/CC | mnv | 19 | |||
rs2501432 | 0.716 | 0.480 | 1 | 23875430 | missense variant | T/C;G | snv | 0.62 | 16 | ||
rs879761216 | 0.732 | 0.480 | 1 | 23875429 | frameshift variant | TT/C;T | delins | 14 | |||
rs4680 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 249 | |
rs3798577 | 0.742 | 0.320 | 6 | 152099995 | 3 prime UTR variant | T/C | snv | 0.45 | 16 | ||
rs13077017 | 3 | 58120049 | intron variant | C/T | snv | 0.21 | 2 | ||||
rs9939609 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 98 | ||
rs1805576 | 1.000 | 0.040 | 3 | 180949777 | intron variant | C/G;T | snv | 0.24 | 3 | ||
rs17536211 | 1.000 | 0.040 | 4 | 46085716 | intron variant | A/C | snv | 0.14 | 3 | ||
rs495225 | 0.882 | 0.040 | 3 | 172448243 | synonymous variant | G/A;C;T | snv | 0.66 | 4 | ||
rs61754648 | 2 | 239090026 | missense variant | C/T | snv | 1.4E-03 | 1.8E-03 | 1 | |||
rs6313 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 82 | |
rs6311 | 0.645 | 0.640 | 13 | 46897343 | upstream gene variant | C/T | snv | 0.40 | 41 | ||
rs4869317 | 1.000 | 0.040 | 5 | 96956300 | intron variant | T/A | snv | 0.22 | 2 | ||
rs12149074 | 1.000 | 0.040 | 16 | 80071969 | intron variant | C/A;G | snv | 3 | |||
rs10858583 | 1.000 | 0.040 | 12 | 87334666 | intergenic variant | C/T | snv | 0.79 | 3 |