Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1000283 | 0.925 | 0.080 | 1 | 209721316 | intron variant | G/A | snv | 0.18 | 2 | ||
rs1137101 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 77 | |
rs12086634 | 0.827 | 0.280 | 1 | 209706914 | intron variant | T/G | snv | 0.21 | 0.20 | 6 | |
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs17368528 | 0.827 | 0.400 | 1 | 9264154 | missense variant | C/A;T | snv | 0.12 | 8.9E-02 | 5 | |
rs1801131 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 93 | |
rs1801133 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 174 | |
rs1805094 | 0.716 | 0.440 | 1 | 65610269 | missense variant | G/C;T | snv | 0.16; 4.0E-06 | 16 | ||
rs2228145 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 57 | ||
rs2516839 | 0.732 | 0.320 | 1 | 161043331 | 5 prime UTR variant | C/T | snv | 0.49 | 14 | ||
rs324420 | 0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 | 48 | |
rs340874 | 0.882 | 0.080 | 1 | 213985913 | non coding transcript exon variant | T/C | snv | 0.40 | 7 | ||
rs3737787 | 0.763 | 0.280 | 1 | 161039733 | 3 prime UTR variant | G/A | snv | 0.21 | 11 | ||
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs4641 | 0.851 | 0.120 | 1 | 156137743 | splice region variant | C/T | snv | 0.26 | 0.21 | 6 | |
rs4762 | 0.637 | 0.440 | 1 | 230710231 | missense variant | G/A | snv | 0.12 | 0.11 | 35 | |
rs5068 | 0.776 | 0.160 | 1 | 11845917 | 3 prime UTR variant | A/G;T | snv | 13 | |||
rs6688832 | 0.752 | 0.440 | 1 | 9263851 | missense variant | G/A;C | snv | 0.28; 1.2E-04 | 10 | ||
rs699 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 134 | |
rs726344 | 0.882 | 0.120 | 1 | 32867503 | intron variant | G/A | snv | 0.16 | 3 | ||
rs80356814 | 0.732 | 0.320 | 1 | 156138697 | synonymous variant | C/T | snv | 8.0E-06 | 15 | ||
rs846910 | 0.882 | 0.160 | 1 | 209701909 | intron variant | A/G | snv | 0.95 | 6 | ||
rs1260326 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 81 | |
rs1801276 | 0.882 | 0.160 | 2 | 226797205 | missense variant | C/G | snv | 1.4E-02 | 1.3E-02 | 3 | |
rs1801278 | 0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 | 38 |