Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2228145 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 57 | ||
rs1205 | 0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 | 46 | ||
rs1800947 | 0.683 | 0.440 | 1 | 159713648 | splice region variant | C/A;G;T | snv | 4.4E-05; 5.1E-02; 4.0E-06 | 28 | ||
rs1130864 | 0.672 | 0.520 | 1 | 159713301 | 3 prime UTR variant | G/A | snv | 0.26 | 27 | ||
rs646776 | 0.752 | 0.240 | 1 | 109275908 | downstream gene variant | C/T | snv | 0.74 | 25 | ||
rs12075 | 0.724 | 0.240 | 1 | 159205564 | missense variant | G/A | snv | 0.51 | 0.66 | 22 | |
rs629301 | 0.851 | 0.120 | 1 | 109275684 | 3 prime UTR variant | G/T | snv | 0.74 | 22 | ||
rs8192284 | 0.724 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 19 | |||
rs3091244 | 0.724 | 0.280 | 1 | 159714875 | upstream gene variant | G/A;T | snv | 17 | |||
rs4129267 | 0.807 | 0.200 | 1 | 154453788 | intron variant | C/G;T | snv | 13 | |||
rs3093059 | 0.752 | 0.520 | 1 | 159715346 | upstream gene variant | A/G | snv | 0.13 | 11 | ||
rs4537545 | 0.790 | 0.160 | 1 | 154446403 | intron variant | C/T | snv | 0.48 | 11 | ||
rs2274567 | 0.776 | 0.400 | 1 | 207580276 | missense variant | A/G | snv | 0.25 | 0.21 | 10 | |
rs12239046 | 1 | 247438293 | intron variant | T/C | snv | 0.58 | 9 | ||||
rs2794520 | 0.807 | 0.240 | 1 | 159709026 | upstream gene variant | C/A;T | snv | 9 | |||
rs3093077 | 0.827 | 0.200 | 1 | 159709846 | upstream gene variant | A/C;G;T | snv | 9 | |||
rs4845625 | 0.851 | 0.080 | 1 | 154449591 | intron variant | T/C | snv | 0.60 | 9 | ||
rs6700896 | 0.827 | 0.160 | 1 | 65624099 | intron variant | C/T | snv | 0.44 | 9 | ||
rs7529229 | 0.851 | 0.120 | 1 | 154448302 | intron variant | T/C | snv | 0.48 | 8 | ||
rs1892534 | 0.925 | 0.120 | 1 | 65640261 | 3 prime UTR variant | C/T | snv | 0.44 | 7 | ||
rs7553007 | 0.827 | 0.120 | 1 | 159728759 | intergenic variant | G/A | snv | 0.31 | 7 | ||
rs1805096 | 0.827 | 0.200 | 1 | 65636574 | synonymous variant | G/A | snv | 0.46 | 0.43 | 6 | |
rs11573156 | 0.882 | 0.240 | 1 | 19979653 | 5 prime UTR variant | G/C | snv | 0.19 | 5 | ||
rs3093075 | 0.882 | 0.120 | 1 | 159710123 | upstream gene variant | G/T | snv | 0.13 | 5 | ||
rs4660293 | 1 | 39562508 | non coding transcript exon variant | A/C;G | snv | 5 |