Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1137101 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 77 | |
rs324420 | 0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 | 48 | |
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 | |||
rs1256046734 | 0.763 | 0.280 | 1 | 65621409 | missense variant | A/G | snv | 7.0E-06 | 12 | ||
rs324419 | 0.925 | 0.120 | 1 | 46406314 | stop gained | T/A;C | snv | 0.87 | 3 | ||
rs274609 | 1.000 | 0.080 | 1 | 74504631 | intron variant | A/G | snv | 0.67 | 1 | ||
rs873978 | 1.000 | 0.080 | 1 | 46408231 | intron variant | C/T | snv | 5.2E-02 | 1 | ||
rs2943650 | 0.827 | 0.120 | 2 | 226241205 | intergenic variant | C/T | snv | 0.58 | 6 | ||
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 | |||
rs1501299 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 52 | |||
rs696217 | 0.662 | 0.640 | 3 | 10289773 | missense variant | G/T | snv | 8.8E-02 | 7.1E-02 | 32 | |
rs2535633 | 1.000 | 0.080 | 3 | 52825614 | intron variant | C/G | snv | 0.48 | 4 | ||
rs1010553 | 1.000 | 0.080 | 3 | 52506757 | synonymous variant | T/C | snv | 0.53 | 0.59 | 2 | |
rs6857715 | 0.827 | 0.160 | 4 | 155208030 | non coding transcript exon variant | C/A;T | snv | 5 | |||
rs1996023 | 0.925 | 0.120 | 4 | 45162620 | intergenic variant | T/A;G | snv | 3 | |||
rs12500837 | 1.000 | 0.080 | 4 | 55627872 | intron variant | T/C | snv | 0.21 | 1 | ||
rs149106723 | 1.000 | 0.080 | 4 | 55599178 | missense variant | G/A | snv | 1.6E-05 | 4.2E-05 | 1 | |
rs6827359 | 1.000 | 0.080 | 4 | 55627773 | intron variant | T/C | snv | 0.49 | 1 | ||
rs9999653 | 1.000 | 0.080 | 4 | 55632082 | intron variant | C/T | snv | 0.51 | 1 | ||
rs4704397 | 0.807 | 0.200 | 5 | 77222617 | intron variant | G/A | snv | 0.54 | 13 | ||
rs6234 | 0.851 | 0.160 | 5 | 96393270 | missense variant | G/C | snv | 0.27 | 0.24 | 8 | |
rs6232 | 0.925 | 0.080 | 5 | 96416081 | missense variant | T/C | snv | 3.9E-02 | 3.2E-02 | 2 |