Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs77375493 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 187 | ||
rs1801133 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 174 | |
rs1188383936 | 0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 | 102 | ||
rs12979860 | 0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 | 84 | ||
rs8099917 | 0.581 | 0.600 | 19 | 39252525 | upstream gene variant | T/G | snv | 0.16 | 60 | ||
rs6025 | 0.637 | 0.560 | 1 | 169549811 | missense variant | C/T | snv | 1.8E-02 | 43 | ||
rs148636776 | 0.790 | 0.280 | 12 | 111447491 | missense variant | G/A | snv | 1.5E-04 | 2.4E-04 | 18 | |
rs483352822 | 0.776 | 0.360 | 1 | 155904470 | stop lost | C/A;G;T | snv | 16 | |||
rs2227564 | 0.763 | 0.320 | 10 | 73913343 | missense variant | T/C | snv | 0.75 | 0.81 | 15 | |
rs757075712 | 0.763 | 0.200 | 10 | 58390856 | missense variant | C/T | snv | 1.6E-05 | 1.4E-05 | 15 | |
rs104894809 | 0.790 | 0.120 | X | 48792371 | missense variant | G/A | snv | 9.5E-06 | 9 | ||
rs759304648 | 0.790 | 0.240 | 9 | 121312479 | synonymous variant | G/A | snv | 8.0E-05 | 3.5E-05 | 9 | |
rs61749397 | 0.807 | 0.080 | 12 | 6019472 | missense variant | C/G;T | snv | 4.0E-06 | 9 | ||
rs483352867 | 0.827 | 0.400 | 11 | 4074620 | missense variant | C/T | snv | 8 | |||
rs121912713 | 0.851 | 0.200 | 14 | 94378561 | missense variant | A/C | snv | 5 | |||
rs886043118 | 0.925 | 0.040 | 2 | 191009916 | frameshift variant | T/- | delins | 5 | |||
rs387907201 | 1.000 | 0.080 | 11 | 46739326 | missense variant | G/A;T | snv | 4 | |||
rs121965064 | 0.925 | 0.080 | 4 | 186280258 | missense variant | T/C | snv | 1.1E-03 | 6.4E-04 | 3 | |
rs1482856709 | 0.925 | 0.080 | 3 | 93900887 | missense variant | G/A | snv | 3 | |||
rs72547528 | 0.925 | 0.120 | 16 | 31091334 | missense variant | G/A;C | snv | 7.2E-05; 8.1E-06 | 3 | ||
rs61750610 | 0.925 | 0.080 | 12 | 6013630 | missense variant | G/T | snv | 3 | |||
rs575627531 | 1.000 | 0.120 | 9 | 104814211 | stop gained | G/A | snv | 2 | |||
rs121909675 | 1.000 | 0.080 | 2 | 85553045 | missense variant | A/C | snv | 4.0E-06 | 7.0E-06 | 2 | |
rs34377097 | 1.000 | 19 | 3600456 | missense variant | C/A | snv | 5.8E-05 | 2.1E-05 | 2 |