Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1163944538 | 0.641 | 0.560 | 17 | 75494905 | frameshift variant | -/A | delins | 4.0E-06 | 73 | ||
rs11142387 | 9 | 70383416 | downstream gene variant | A/C | snv | 0.49 | 7 | ||||
rs767543900 | 0.790 | 0.120 | 17 | 45971879 | missense variant | A/C;G | snv | 4.0E-06 | 10 | ||
rs148881970 | 0.724 | 0.360 | 17 | 42543840 | missense variant | A/G | snv | 5.4E-05 | 1.3E-04 | 22 | |
rs17125721 | 0.763 | 0.120 | 14 | 73206470 | missense variant | A/G | snv | 1.5E-02 | 1.5E-02 | 14 | |
rs1556424691 | 0.851 | 0.200 | MT | 15923 | non coding transcript exon variant | A/G | snv | 13 | |||
rs744373 | 0.851 | 0.160 | 2 | 127137039 | downstream gene variant | A/G | snv | 0.35 | 8 | ||
rs1397094538 | 0.925 | 0.120 | 1 | 23367044 | missense variant | A/T | snv | 4.0E-06 | 3 | ||
rs1554317002 | 0.724 | 0.440 | 7 | 39950821 | frameshift variant | C/- | delins | 45 | |||
rs63750264 | 0.716 | 0.360 | 21 | 25891784 | missense variant | C/A;G;T | snv | 17 | |||
rs763868966 | 1.000 | 0.080 | 17 | 44911429 | stop gained | C/A;G;T | snv | 1.2E-05; 4.0E-05 | 4 | ||
rs28937900 | 0.752 | 0.160 | 19 | 46756276 | missense variant | C/A;T | snv | 1.0E-03 | 37 | ||
rs1424266770 | 0.790 | 0.200 | 4 | 184632307 | missense variant | C/G | snv | 8.0E-06 | 10 | ||
rs1799945 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 226 | |
rs281865071 | 0.882 | 0.080 | 1 | 154571759 | missense variant | C/G;T | snv | 5 | |||
rs6265 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 272 | |
rs759834365 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 237 | ||
rs104893877 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 59 | |||
rs63751273 | 0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv | 42 | |||
rs63750424 | 0.677 | 0.240 | 17 | 46024061 | missense variant | C/T | snv | 1.6E-05 | 30 | ||
rs104894396 | 0.672 | 0.400 | 13 | 20189511 | stop gained | C/T | snv | 5.8E-04 | 1.1E-04 | 28 | |
rs63750577 | 0.827 | 0.120 | 14 | 73186881 | missense variant | C/T | snv | 8 | |||
rs63751011 | 0.925 | 0.120 | 17 | 46010418 | intron variant | C/T | snv | 4 | |||
rs1411832 | 1.000 | 0.040 | 10 | 106126497 | intergenic variant | C/T | snv | 0.10 | 2 | ||
rs4680 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 249 |