Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs72556554 | 0.776 | 0.400 | 3 | 48466996 | missense variant | G/A;C | snv | 2.1E-04; 2.7E-04 | 9 | ||
rs17615 | 0.827 | 0.200 | 1 | 207473117 | missense variant | G/A | snv | 0.26 | 0.31 | 5 | |
rs370504038 | 0.851 | 0.160 | 3 | 48467569 | missense variant | A/G | snv | 1.2E-04 | 1.2E-04 | 4 | |
rs1270942 | 0.742 | 0.440 | 6 | 31951083 | non coding transcript exon variant | A/G | snv | 7.5E-02 | 11 | ||
rs3810936 | 0.742 | 0.320 | 9 | 114790605 | synonymous variant | T/C | snv | 0.71 | 0.75 | 12 | |
rs1048971 | 0.851 | 0.160 | 1 | 207472977 | synonymous variant | G/A;T | snv | 0.34; 8.0E-06 | 4 | ||
rs3813946 | 0.827 | 0.280 | 1 | 207454348 | 5 prime UTR variant | T/C | snv | 0.16 | 5 | ||
rs2004640 | 0.662 | 0.520 | 7 | 128938247 | splice donor variant | T/G | snv | 0.52 | 26 | ||
rs1205 | 0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 | 46 | ||
rs1130864 | 0.672 | 0.520 | 1 | 159713301 | 3 prime UTR variant | G/A | snv | 0.26 | 27 | ||
rs2070197 | 0.827 | 0.280 | 7 | 128948946 | 3 prime UTR variant | T/C | snv | 9.0E-02 | 6 | ||
rs12938 | 0.851 | 0.160 | 1 | 169691640 | 3 prime UTR variant | A/G | snv | 0.27 | 5 | ||
rs1206255976 | 0.851 | 0.160 | 1 | 22637618 | start lost | T/G | snv | 7.0E-06 | 4 | ||
rs2275913 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 105 | ||
rs1800625 | 0.641 | 0.680 | 6 | 32184665 | upstream gene variant | A/G | snv | 0.15 | 39 | ||
rs2736340 | 0.683 | 0.480 | 8 | 11486464 | upstream gene variant | C/T | snv | 0.25 | 22 | ||
rs10488631 | 0.742 | 0.280 | 7 | 128954129 | upstream gene variant | T/C | snv | 9.0E-02 | 13 | ||
rs7848647 | 0.732 | 0.320 | 9 | 114806766 | upstream gene variant | T/C | snv | 0.74 | 13 | ||
rs3093061 | 0.851 | 0.160 | 1 | 159715192 | upstream gene variant | T/C | snv | 4.8E-02 | 4 |