Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2227956 | 0.752 | 0.400 | 6 | 31810495 | missense variant | G/A;C;T | snv | 0.87 | 4 | ||
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 1 | ||
rs1061170 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 7 | |
rs2228570 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 1 | ||
rs2736155 | 0.925 | 0.160 | 6 | 31637422 | non coding transcript exon variant | G/C | snv | 0.51 | 0.44 | 2 | |
rs502268 | 1.000 | 0.040 | 6 | 152447661 | intron variant | T/G | snv | 0.47 | 0.52 | 1 | |
rs214976 | 1.000 | 0.040 | 6 | 152451129 | missense variant | A/G | snv | 0.47 | 0.52 | 1 | |
rs4633 | 0.695 | 0.400 | 22 | 19962712 | synonymous variant | C/T | snv | 0.46 | 0.45 | 2 | |
rs2522833 | 0.827 | 0.080 | 7 | 82824392 | missense variant | A/C | snv | 0.45 | 0.34 | 1 | |
rs3733045 | 0.925 | 0.040 | 3 | 52609291 | non coding transcript exon variant | A/G;T | snv | 0.44 | 2 | ||
rs717454 | 1.000 | 0.040 | 2 | 99406310 | non coding transcript exon variant | T/C;G | snv | 0.44; 8.2E-06 | 1 | ||
rs2289247 | 0.925 | 0.040 | 3 | 52693241 | missense variant | G/A | snv | 0.43 | 0.46 | 2 | |
rs2290261 | 1.000 | 0.040 | 2 | 99404721 | intron variant | A/G | snv | 0.43 | 0.42 | 1 | |
rs2878628 | 0.925 | 0.040 | 3 | 52550699 | intron variant | A/G | snv | 0.42 | 0.42 | 3 | |
rs1042779 | 0.882 | 0.040 | 3 | 52786995 | missense variant | A/G | snv | 0.40 | 0.42 | 3 | |
rs2268026 | 0.925 | 0.040 | 3 | 52744331 | intron variant | T/C | snv | 0.40 | 0.34 | 2 | |
rs2230535 | 0.925 | 0.040 | 3 | 52766268 | synonymous variant | T/C | snv | 0.40 | 0.34 | 2 | |
rs2230534 | 1.000 | 0.040 | 3 | 52768386 | synonymous variant | A/C;T | snv | 0.40 | 1 | ||
rs2251219 | 0.732 | 0.120 | 3 | 52550771 | synonymous variant | T/C;G | snv | 0.39; 4.0E-06 | 0.34 | 3 | |
rs3755806 | 0.925 | 0.040 | 3 | 52609669 | synonymous variant | T/C | snv | 0.39 | 0.34 | 2 | |
rs11177 | 0.851 | 0.080 | 3 | 52687289 | missense variant | G/A | snv | 0.38 | 0.33 | 3 | |
rs3819325 | 1.000 | 0.040 | 3 | 49806290 | non coding transcript exon variant | T/C;G | snv | 0.38; 7.9E-04 | 2 | ||
rs6976 | 0.851 | 0.080 | 3 | 52694788 | 3 prime UTR variant | C/T | snv | 0.38 | 0.33 | 4 | |
rs662 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 4 | |
rs2286798 | 1.000 | 0.040 | 3 | 52787161 | intron variant | A/C | snv | 0.38 | 0.37 | 2 |