Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1051730 | 0.641 | 0.600 | 15 | 78601997 | synonymous variant | G/A | snv | 0.27 | 0.26 | 43 | |
rs6819385 | 0.925 | 0.080 | 4 | 40337557 | intron variant | A/G | snv | 0.52 | 2 | ||
rs401681 | 0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 | 42 | ||
rs402710 | 0.716 | 0.320 | 5 | 1320607 | non coding transcript exon variant | C/T | snv | 0.33 | 0.38 | 18 | |
rs4680 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 249 | |
rs4073 | 0.566 | 0.800 | 4 | 73740307 | upstream gene variant | A/T | snv | 0.46 | 64 | ||
rs1048943 | 0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 | 88 | |
rs12587742 | 0.851 | 0.080 | 14 | 72926683 | intron variant | G/A | snv | 0.18 | 5 | ||
rs201701502 | 0.851 | 0.080 | 1 | 162775837 | missense variant | C/G;T | snv | 1.5E-04 | 2.1E-05 | 5 | |
rs765660823 | 0.882 | 0.200 | 1 | 162778720 | missense variant | A/C | snv | 1.9E-04 | 4 | ||
rs144594252 | 0.882 | 0.080 | 1 | 162754625 | missense variant | C/G | snv | 6.8E-05 | 5.6E-05 | 3 | |
rs267598140 | 0.925 | 0.080 | 1 | 162778600 | missense variant | T/A;G | snv | 3 | |||
rs115169993 | 1.000 | 0.040 | 1 | 162772032 | missense variant | G/A | snv | 7.8E-04 | 2.9E-03 | 1 | |
rs4268748 | 0.925 | 0.080 | 16 | 89960104 | intron variant | T/C | snv | 0.30 | 3 | ||
rs8063761 | 1.000 | 0.040 | 16 | 89961218 | intron variant | A/T | snv | 0.33 | 1 | ||
rs2285947 | 0.807 | 0.120 | 7 | 21544470 | intron variant | G/A | snv | 0.44 | 7 | ||
rs9383064 | 1.000 | 0.040 | 6 | 15535090 | intron variant | G/C | snv | 0.24 | 1 | ||
rs121434568 | 0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv | 73 | |||
rs1057519847 | 0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv | 72 | |||
rs1057519848 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 72 | |||
rs28929495 | 0.807 | 0.120 | 7 | 55174014 | missense variant | G/A;C;T | snv | 9 | |||
rs1389500636 | 0.827 | 0.080 | 7 | 55156796 | missense variant | G/A | snv | 6 | |||
rs121434569 | 0.581 | 0.520 | 7 | 55181378 | missense variant | C/T | snv | 2.8E-05 | 5.6E-05 | 70 | |
rs121913465 | 0.763 | 0.160 | 7 | 55181312 | missense variant | G/T | snv | 11 | |||
rs397517108 | 0.790 | 0.120 | 7 | 55181312 | missense variant | GC/TT | mnv | 9 |