Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs753885266 | 1.000 | 0.040 | 6 | 73621899 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 1 | |
rs222054 | 1.000 | 0.040 | 4 | 71738582 | downstream gene variant | C/G | snv | 0.27 | 1 | ||
rs1227756 | 0.925 | 0.080 | 10 | 69828748 | intron variant | G/A;C | snv | 2 | |||
rs6499186 | 1.000 | 0.040 | 16 | 68626662 | downstream gene variant | C/T | snv | 0.84 | 1 | ||
rs698718 | 1.000 | 0.040 | 16 | 68526282 | upstream gene variant | A/C;G;T | snv | 1 | |||
rs11599176 | 0.925 | 0.080 | 10 | 67894017 | intron variant | A/G | snv | 0.11 | 2 | ||
rs33957861 | 0.882 | 0.160 | 10 | 67887218 | intron variant | C/T | snv | 0.11 | 3 | ||
rs1953124 | 1.000 | 0.040 | 13 | 65771915 | regulatory region variant | C/A;G;T | snv | 1 | |||
rs1805096 | 0.827 | 0.200 | 1 | 65636574 | synonymous variant | G/A | snv | 0.46 | 0.43 | 6 | |
rs6700896 | 0.827 | 0.160 | 1 | 65624099 | intron variant | C/T | snv | 0.44 | 9 | ||
rs1805094 | 0.716 | 0.440 | 1 | 65610269 | missense variant | G/C;T | snv | 0.16; 4.0E-06 | 16 | ||
rs1137101 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 77 | |
rs6591182 | 0.925 | 0.080 | 11 | 65582285 | missense variant | T/G | snv | 0.47 | 0.45 | 2 | |
rs1137100 | 0.627 | 0.640 | 1 | 65570758 | missense variant | A/G | snv | 0.30 | 0.25 | 39 | |
rs3834458 | 0.807 | 0.200 | 11 | 61827449 | intron variant | T/- | del | 0.28 | 7 | ||
rs12970134 | 0.790 | 0.280 | 18 | 60217517 | intergenic variant | G/A | snv | 0.21 | 13 | ||
rs17782313 | 0.683 | 0.480 | 18 | 60183864 | intergenic variant | T/C | snv | 0.24 | 34 | ||
rs773641005 | 0.742 | 0.240 | 16 | 58723829 | missense variant | T/C | snv | 14 | |||
rs6993 | 0.925 | 0.080 | 16 | 58707463 | 3 prime UTR variant | A/G | snv | 0.59 | 3 | ||
rs56225452 | 0.851 | 0.080 | 19 | 58513279 | upstream gene variant | C/T | snv | 0.18 | 5 | ||
rs4640525 | 0.925 | 0.080 | 3 | 57229366 | intron variant | G/C | snv | 0.36 | 2 | ||
rs3806622 | 1.000 | 0.040 | 3 | 57226802 | intron variant | C/G | snv | 0.47 | 1 | ||
rs1800777 | 0.724 | 0.280 | 16 | 56983407 | missense variant | G/A | snv | 3.7E-02 | 2.8E-02 | 17 | |
rs3743788 | 1.000 | 0.040 | 16 | 55700194 | missense variant | T/C | snv | 3.2E-03 | 9.6E-04 | 1 | |
rs4864548 | 0.827 | 0.160 | 4 | 55547636 | non coding transcript exon variant | G/A | snv | 0.33 | 8 |