Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs34778348 | 0.742 | 0.120 | 12 | 40363526 | missense variant | G/A | snv | 1.7E-03 | 5.8E-04 | 15 | |
rs1799836 | 0.790 | 0.160 | X | 43768752 | intron variant | T/A;C | snv | 0.43 | 7 | ||
rs4911871 | 1.000 | 0.080 | X | 114762580 | intron variant | A/G | snv | 0.15 | 1 | ||
rs752513525 | 0.882 | 0.120 | 19 | 19526257 | missense variant | G/A;T | snv | 2.4E-05 | 3 | ||
rs2293054 | 0.925 | 0.080 | 12 | 117263909 | synonymous variant | A/G;T | snv | 0.69; 4.0E-06 | 2 | ||
rs1799971 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 95 | |
rs146539065 | 0.752 | 0.240 | 4 | 25145092 | synonymous variant | C/T | snv | 2.8E-05 | 4.2E-05 | 34 | |
rs776969714 | 0.752 | 0.240 | 4 | 25145129 | splice acceptor variant | -/C | delins | 4.2E-05 | 34 | ||
rs628031 | 0.807 | 0.280 | 6 | 160139813 | missense variant | A/C;G | snv | 5.3E-05; 0.63 | 8 | ||
rs28363170 | 0.827 | 0.120 | 5 | 1393745 | 3 prime UTR variant | -/AGTGGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCC | delins | 8.1E-06 | 7 | ||
rs393795 | 0.851 | 0.160 | 5 | 1428399 | intron variant | G/T | snv | 0.28 | 4 | ||
rs4880 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 131 | |
rs953038635 | 0.590 | 0.800 | 6 | 159692720 | missense variant | G/A;T | snv | 8.0E-06 | 51 | ||
rs796052243 | 0.695 | 0.520 | 4 | 122934574 | inframe deletion | CAA/- | delins | 54 | |||
rs113994152 | 0.790 | 0.160 | 17 | 75522000 | missense variant | G/T | snv | 9.0E-04 | 9.0E-04 | 11 | |
rs139455627 | 0.851 | 0.240 | 21 | 44531087 | stop gained | G/A | snv | 3.2E-04 | 2.7E-04 | 14 | |
rs1569151872 | 0.851 | 0.240 | 21 | 44509225 | frameshift variant | GAC/AA | delins | 14 |