Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1131691014 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 214 | |||
rs4459895 | 0.827 | 0.160 | 3 | 188236626 | intron variant | A/C | snv | 0.88 | 5 | ||
rs1057519959 | 0.882 | 0.200 | 11 | 66063028 | missense variant | A/C | snv | 4 | |||
rs4240807 | 0.851 | 0.160 | 16 | 85951755 | downstream gene variant | A/C | snv | 0.76 | 4 | ||
rs9378805 | 0.851 | 0.280 | 6 | 417727 | intergenic variant | A/C | snv | 0.36 | 4 | ||
rs6586163 | 0.925 | 0.120 | 10 | 88992261 | non coding transcript exon variant | A/C | snv | 0.58 | 2 | ||
rs4505265 | 1.000 | 0.120 | 15 | 81185114 | intron variant | A/C | snv | 1 | |||
rs2705511 | 1.000 | 0.120 | 3 | 112460632 | downstream gene variant | A/C;G | snv | 1 | |||
rs854560 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 113 | ||
rs113488022 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 490 | ||
rs760043106 | 0.645 | 0.440 | 17 | 7674947 | missense variant | A/C;G;T | snv | 32 | |||
rs1057519981 | 0.689 | 0.440 | 17 | 7674251 | missense variant | A/C;G;T | snv | 22 | |||
rs876660821 | 0.689 | 0.400 | 17 | 7675075 | missense variant | A/C;G;T | snv | 22 | |||
rs1057519997 | 0.776 | 0.320 | 17 | 7676037 | missense variant | A/C;G;T | snv | 9 | |||
rs876659675 | 0.807 | 0.280 | 17 | 7674199 | missense variant | A/C;G;T | snv | 8 | |||
rs2003869 | 0.925 | 0.120 | 4 | 108105258 | intron variant | A/C;G;T | snv | 2 | |||
rs1057519832 | 1.000 | 0.120 | 16 | 81928578 | missense variant | A/C;G;T | snv | 1 | |||
rs2032582 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 97 | ||
rs2052702 | 0.925 | 0.120 | 15 | 69697166 | non coding transcript exon variant | A/C;T | snv | 2 | |||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs17576 | 0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 | 73 | |
rs1128503 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 64 | |
rs20541 | 0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 | 52 | |
rs1800682 | 0.637 | 0.440 | 10 | 88990206 | non coding transcript exon variant | A/G | snv | 0.54 | 32 | ||
rs879253942 | 0.677 | 0.400 | 17 | 7673826 | missense variant | A/G | snv | 28 |