Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs5065 | 0.763 | 0.240 | 1 | 11846011 | stop lost | A/G | snv | 0.14 | 0.21 | 12 | |
rs5063 | 0.763 | 0.280 | 1 | 11847591 | missense variant | C/T | snv | 5.6E-02 | 5.3E-02 | 12 | |
rs17568 | 0.752 | 0.320 | 1 | 1212042 | synonymous variant | C/T | snv | 0.37 | 0.31 | 12 | |
rs765798193 | 0.732 | 0.320 | 12 | 121915884 | frameshift variant | G/-;GG | delins | 18 | |||
rs14259 | 0.724 | 0.360 | 12 | 121915890 | missense variant | A/C;G | snv | 4.0E-06; 0.32 | 19 | ||
rs5370 | 0.630 | 0.520 | 6 | 12296022 | missense variant | G/T | snv | 0.23 | 0.21 | 37 | |
rs17321515 | 0.776 | 0.200 | 8 | 125474167 | intron variant | A/G | snv | 0.49 | 16 | ||
rs9349379 | 0.732 | 0.200 | 6 | 12903725 | intron variant | A/G | snv | 0.32 | 19 | ||
rs11556924 | 0.752 | 0.240 | 7 | 130023656 | missense variant | C/A;T | snv | 4.0E-06; 0.28 | 21 | ||
rs579459 | 0.752 | 0.320 | 9 | 133278724 | upstream gene variant | C/T | snv | 0.81 | 28 | ||
rs12190287 | 0.708 | 0.280 | 6 | 133893387 | 3 prime UTR variant | C/G;T | snv | 19 | |||
rs1799998 | 0.742 | 0.200 | 8 | 142918184 | upstream gene variant | A/G;T | snv | 0.38 | 14 | ||
rs5182 | 0.742 | 0.160 | 3 | 148741608 | synonymous variant | C/T | snv | 0.49 | 0.41 | 16 | |
rs1042713 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 63 | |
rs1042714 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 54 | ||
rs375752214 | 0.708 | 0.400 | 7 | 150998541 | missense variant | C/T | snv | 4.1E-06 | 4.2E-05 | 22 | |
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs2234693 | 0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 | 77 | ||
rs9340799 | 0.583 | 0.680 | 6 | 151842246 | intron variant | A/G | snv | 0.32 | 62 | ||
rs4845625 | 0.851 | 0.080 | 1 | 154449591 | intron variant | T/C | snv | 0.60 | 9 | ||
rs2228145 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 57 | ||
rs7692387 | 0.925 | 0.080 | 4 | 155714157 | intron variant | G/A | snv | 0.16 | 5 | ||
rs2108622 | 0.742 | 0.280 | 19 | 15879621 | missense variant | C/T | snv | 0.27 | 0.22 | 20 | |
rs4880 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 131 | |
rs1130864 | 0.672 | 0.520 | 1 | 159713301 | 3 prime UTR variant | G/A | snv | 0.26 | 27 |