Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1799889 | 0.649 | 0.600 | 7 | 101126430 | upstream gene variant | A/G | snv | 31 | |||
rs763351020 | 0.633 | 0.560 | 7 | 101132046 | missense variant | C/T | snv | 4.0E-06 | 35 | ||
rs9797861 | 0.790 | 0.200 | 19 | 10632450 | intron variant | C/A;G;T | snv | 6 | |||
rs747418061 | 0.807 | 0.200 | 5 | 112828920 | missense variant | G/A | snv | 3.2E-05 | 7.0E-06 | 10 | |
rs1248438558 | 0.925 | 0.120 | 13 | 113149020 | missense variant | G/A;T | snv | 4.0E-06; 4.0E-06 | 2 | ||
rs7080536 | 0.683 | 0.360 | 10 | 113588287 | missense variant | G/A | snv | 2.2E-02 | 2.4E-02 | 23 | |
rs1203757587 | 1.000 | 0.040 | 1 | 11792279 | missense variant | T/C | snv | 4.0E-06 | 1 | ||
rs1255283120 | 0.807 | 0.160 | 1 | 11792345 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 7 | |
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs1801131 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 92 | |
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs1801133 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 169 | |
rs1799808 | 1.000 | 0.040 | 2 | 127418286 | upstream gene variant | C/T | snv | 0.33 | 1 | ||
rs1799810 | 1.000 | 0.040 | 2 | 127418464 | 5 prime UTR variant | A/T | snv | 0.38 | 0.44 | 2 | |
rs773761677 | 1.000 | 0.040 | 2 | 127428444 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 1 | |
rs121918146 | 0.827 | 0.200 | 2 | 127428485 | missense variant | G/A | snv | 1.2E-05 | 2.1E-05 | 3 | |
rs529565 | 0.851 | 0.120 | 9 | 133274084 | intron variant | C/T | snv | 2 | |||
rs422187 | 1.000 | 0.040 | X | 139550700 | intron variant | A/C;G | snv | 1 | |||
rs6048 | 1.000 | 0.040 | X | 139551121 | missense variant | A/G | snv | 0.22 | 0.23 | 1 | |
rs1799983 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 246 | ||
rs200960801 | 0.827 | 0.200 | 6 | 151944488 | missense variant | A/G | snv | 4.0E-06 | 6 | ||
rs121909613 | 0.882 | 0.160 | 4 | 154585712 | splice acceptor variant | G/A;C;T | snv | 4.8E-05; 4.0E-06 | 4 | ||
rs6050 | 0.827 | 0.120 | 4 | 154586438 | missense variant | T/A;C | snv | 0.29 | 6 | ||
rs2066865 | 0.807 | 0.240 | 4 | 154604124 | downstream gene variant | G/A | snv | 0.26 | 9 | ||
rs114209171 | 0.882 | 0.120 | X | 155050522 | non coding transcript exon variant | T/C | snv | 0.23 | 1 |