Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1416580204 | 0.608 | 0.720 | 14 | 102250837 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 49 | |
rs2241766 | 0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 | 48 | ||
rs5186 | 0.630 | 0.560 | 3 | 148742201 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 | 38 | |
rs266729 | 0.637 | 0.560 | 3 | 186841685 | upstream gene variant | C/A;G;T | snv | 37 | |||
rs16139 | 0.658 | 0.560 | 7 | 24285260 | missense variant | T/A;C | snv | 4.0E-06; 3.0E-02 | 36 | ||
rs4762 | 0.637 | 0.440 | 1 | 230710231 | missense variant | G/A | snv | 0.12 | 0.11 | 35 | |
rs696217 | 0.662 | 0.640 | 3 | 10289773 | missense variant | G/T | snv | 8.8E-02 | 7.1E-02 | 32 | |
rs8192678 | 0.667 | 0.440 | 4 | 23814039 | missense variant | C/T | snv | 0.31 | 0.26 | 28 | |
rs1799752 | 0.677 | 0.480 | 17 | 63488529 | intron variant | -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | delins | 25 | |||
rs4402960 | 0.724 | 0.400 | 3 | 185793899 | intron variant | G/T | snv | 0.38 | 21 | ||
rs1800775 | 0.790 | 0.240 | 16 | 56961324 | upstream gene variant | C/A;G | snv | 0.51; 5.7E-06 | 18 | ||
rs2069837 | 0.724 | 0.520 | 7 | 22728408 | intron variant | A/C;G | snv | 18 | |||
rs3742264 | 0.742 | 0.400 | 13 | 46073959 | missense variant | C/T | snv | 0.31 | 0.35 | 17 | |
rs688 | 0.742 | 0.400 | 19 | 11116926 | synonymous variant | C/T | snv | 0.39 | 0.34 | 16 | |
rs751141 | 0.732 | 0.400 | 8 | 27516348 | missense variant | G/A | snv | 0.12 | 0.10 | 16 | |
rs1177506410 | 0.776 | 0.240 | 1 | 230706148 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 12 | |
rs1275805226 | 0.776 | 0.240 | 1 | 230706148 | frameshift variant | G/- | del | 7.0E-06 | 12 | ||
rs281432 | 0.851 | 0.280 | 19 | 10279982 | intron variant | C/G | snv | 0.52 | 12 | ||
rs7756992 | 0.827 | 0.240 | 6 | 20679478 | intron variant | A/G;T | snv | 12 | |||
rs11643718 | 0.807 | 0.240 | 16 | 56899607 | missense variant | G/A | snv | 0.11 | 8.4E-02 | 10 | |
rs1800764 | 0.790 | 0.320 | 17 | 63473168 | upstream gene variant | C/G;T | snv | 10 | |||
rs3918188 | 0.776 | 0.280 | 7 | 151005693 | intron variant | C/A;T | snv | 10 | |||
rs5030717 | 0.807 | 0.240 | 9 | 117711556 | intron variant | A/G | snv | 0.13 | 9 | ||
rs316019 | 0.790 | 0.360 | 6 | 160249250 | missense variant | A/C | snv | 0.90 | 0.89 | 8 | |
rs4293393 | 0.827 | 0.200 | 16 | 20353266 | intron variant | A/G | snv | 0.20 | 8 |