Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs151134704 | 4 | 102616435 | splice region variant | C/T | snv | 1.6E-04 | 9.1E-05 | 3 | |||
rs79105258 | 12 | 111280427 | intron variant | C/A;T | snv | 24 | |||||
rs10774625 | 0.763 | 0.320 | 12 | 111472415 | intron variant | A/G | snv | 0.66 | 13 | ||
rs653178 | 0.672 | 0.600 | 12 | 111569952 | intron variant | C/T | snv | 0.67 | 41 | ||
rs17696736 | 0.827 | 0.240 | 12 | 112049014 | intron variant | A/G | snv | 0.30 | 18 | ||
rs17050272 | 0.882 | 0.120 | 2 | 120548864 | upstream gene variant | G/A | snv | 0.33 | 9 | ||
rs62435145 | 1.000 | 0.040 | 7 | 1246931 | regulatory region variant | G/T | snv | 0.51 | 8 | ||
rs199592697 | 3 | 13854632 | missense variant | C/T | snv | 1.7E-04 | 1.1E-04 | 3 | |||
rs4971100 | 0.925 | 0.120 | 1 | 155183255 | intron variant | G/A | snv | 0.39 | 5 | ||
rs2070803 | 0.925 | 0.080 | 1 | 155185239 | intron variant | G/A | snv | 0.55 | 5 | ||
rs760077 | 0.925 | 0.120 | 1 | 155208991 | missense variant | T/A | snv | 0.36 | 8 | ||
rs147287428 | 2 | 169206713 | missense variant | C/T | snv | 2.7E-04 | 4.7E-04 | 2 | |||
rs16856823 | 2 | 169343942 | intron variant | A/T | snv | 4.6E-02 | 3 | ||||
rs187355703 | 1.000 | 0.080 | 2 | 176128855 | intron variant | C/G | snv | 1.5E-02 | 1.5E-02 | 4 | |
rs201874364 | 1.000 | 0.040 | 3 | 186065822 | missense variant | C/A;T | snv | 4.0E-06; 7.2E-05 | 4 | ||
rs2453580 | 17 | 19535008 | non coding transcript exon variant | T/C | snv | 0.37 | 4 | ||||
rs77924615 | 1.000 | 0.080 | 16 | 20381010 | intron variant | G/A | snv | 0.16 | 7 | ||
rs1047891 | 0.827 | 0.200 | 2 | 210675783 | missense variant | C/A | snv | 0.30 | 0.33 | 34 | |
rs34861762 | 1.000 | 0.080 | 8 | 23890907 | regulatory region variant | C/T | snv | 0.37 | 3 | ||
rs10109414 | 1.000 | 0.080 | 8 | 23893638 | regulatory region variant | C/T | snv | 0.37 | 5 | ||
rs1260326 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 81 | |
rs780094 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 62 | ||
rs780093 | 0.763 | 0.240 | 2 | 27519736 | intron variant | T/C | snv | 0.68 | 30 | ||
rs963837 | 0.925 | 0.120 | 11 | 30727543 | intergenic variant | T/C | snv | 0.35 | 8 | ||
rs3925584 | 1.000 | 0.080 | 11 | 30738788 | intergenic variant | T/C | snv | 0.35 | 7 |